UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.43122535C>A | CA371122495 | POMK | c.711C>A (p.Ser237Arg) c.*507C>A (n.*507C>A) c.429C>A (p.Ser143Arg) c.*631C>A (n.*631C>A) c.669C>A (p.Ser223Arg) c.*496C>A (n.*496C>A) | |
| 8 | g.43122535C= | CA1779747596 | POMK | c.711C= (p.Ser237=) c.*507C= (n.*507C=) c.429C= (p.Ser143=) c.*631C= (n.*631C=) c.669C= (p.Ser223=) c.*496C= (n.*496C=) | |
| 8 | g.43122535C>G | CA371122496 | POMK | c.711C>G (p.Ser237Arg) c.*507C>G (n.*507C>G) c.429C>G (p.Ser143Arg) c.*631C>G (n.*631C>G) c.669C>G (p.Ser223Arg) c.*496C>G (n.*496C>G) | |
| 8 | g.43122535C>T | CA460787364 | POMK | c.711C>T (p.Ser237=) c.*507C>T (n.*507C>T) c.429C>T (p.Ser143=) c.*631C>T (n.*631C>T) c.669C>T (p.Ser223=) c.*496C>T (n.*496C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.43122536T>A | CA371122497 | POMK | c.712T>A (p.Ser238Thr) c.*508T>A (n.*508T>A) c.430T>A (p.Ser144Thr) c.*632T>A (n.*632T>A) c.670T>A (p.Ser224Thr) c.*497T>A (n.*497T>A) | |
| 8 | g.43122536T>C | CA371122498 | POMK | c.712T>C (p.Ser238Pro) c.*508T>C (n.*508T>C) c.430T>C (p.Ser144Pro) c.*632T>C (n.*632T>C) c.670T>C (p.Ser224Pro) c.*497T>C (n.*497T>C) | |
| 8 | g.43122536T>G | CA371122499 | POMK | c.712T>G (p.Ser238Ala) c.*508T>G (n.*508T>G) c.430T>G (p.Ser144Ala) c.*632T>G (n.*632T>G) c.670T>G (p.Ser224Ala) c.*497T>G (n.*497T>G) | |
| 8 | g.43122537C>A | CA371122500 | POMK | c.713C>A (p.Ser238Tyr) c.*509C>A (n.*509C>A) c.431C>A (p.Ser144Tyr) c.*633C>A (n.*633C>A) c.671C>A (p.Ser224Tyr) c.*498C>A (n.*498C>A) | gnomAD v4 |
| 8 | g.43122537C>G | CA371122501 | POMK | c.713C>G (p.Ser238Cys) c.*509C>G (n.*509C>G) c.431C>G (p.Ser144Cys) c.*633C>G (n.*633C>G) c.671C>G (p.Ser224Cys) c.*498C>G (n.*498C>G) | |
| 8 | g.43122537C>T | CA371122502 | POMK | c.713C>T (p.Ser238Phe) c.*509C>T (n.*509C>T) c.431C>T (p.Ser144Phe) c.*633C>T (n.*633C>T) c.671C>T (p.Ser224Phe) c.*498C>T (n.*498C>T) | COSMIC COSMIC |
| 8 | g.43122538C>A | CA460787370 | POMK | c.714C>A (p.Ser238=) c.*510C>A (n.*510C>A) c.432C>A (p.Ser144=) c.*634C>A (n.*634C>A) c.672C>A (p.Ser224=) c.*499C>A (n.*499C>A) | COSMIC |
| 8 | g.43122538C= | CA1779747601 | POMK | c.714C= (p.Ser238=) c.*510C= (n.*510C=) c.432C= (p.Ser144=) c.*634C= (n.*634C=) c.672C= (p.Ser224=) c.*499C= (n.*499C=) | |
| 8 | g.43122538C>G | CA460787371 | POMK | c.714C>G (p.Ser238=) c.*510C>G (n.*510C>G) c.432C>G (p.Ser144=) c.*634C>G (n.*634C>G) c.672C>G (p.Ser224=) c.*499C>G (n.*499C>G) | |
| 8 | g.43122538C>T | CA4736342 | POMK | c.714C>T (p.Ser238=) c.*510C>T (n.*510C>T) c.432C>T (p.Ser144=) c.*634C>T (n.*634C>T) c.672C>T (p.Ser224=) c.*499C>T (n.*499C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.43122538_43122539delinsCG | CA1779747604 | POMK | c.714_715delinsCG (p.Ser238=) c.*510_*511delinsCG (n.*510_*511delinsCG) c.432_433delinsCG (p.Ser144=) c.*634_*635delinsCG (n.*634_*635delinsCG) c.672_673delinsCG (p.Ser224=) c.*499_*500delinsCG (n.*499_*500delinsCG) | |
| 8 | g.43122539G>A | CA4736343 | POMK | c.715G>A (p.Gly239Arg) c.*511G>A (n.*511G>A) c.433G>A (p.Gly145Arg) c.*635G>A (n.*635G>A) c.673G>A (p.Gly225Arg) c.*500G>A (n.*500G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.43122539G>C | CA371122503 | POMK | c.715G>C (p.Gly239Arg) c.*511G>C (n.*511G>C) c.433G>C (p.Gly145Arg) c.*635G>C (n.*635G>C) c.673G>C (p.Gly225Arg) c.*500G>C (n.*500G>C) | gnomAD v4 |
| 8 | g.43122539G= | CA1779747610 | POMK | c.715G= (p.Gly239=) c.*511G= (n.*511G=) c.433G= (p.Gly145=) c.*635G= (n.*635G=) c.673G= (p.Gly225=) c.*500G= (n.*500G=) | |
| 8 | g.43122539G>T | CA371122504 | POMK | c.715G>T (p.Gly239Trp) c.*511G>T (n.*511G>T) c.433G>T (p.Gly145Trp) c.*635G>T (n.*635G>T) c.673G>T (p.Gly225Trp) c.*500G>T (n.*500G>T) | |
| 8 | g.43122541del | CA1779747609 | POMK | c.717del (p.Met240CysfsTer3) c.*513del (n.*513del) c.435del (p.Met146CysfsTer3) c.*637del (n.*637del) c.675del (p.Met226CysfsTer3) c.*502del (n.*502del) | dbSNP |
| 8 | g.43122540G>A | CA371122507 | POMK | c.716G>A (p.Gly239Glu) c.*512G>A (n.*512G>A) c.434G>A (p.Gly145Glu) c.*636G>A (n.*636G>A) c.674G>A (p.Gly225Glu) c.*501G>A (n.*501G>A) | |
| 8 | g.43122540G>C | CA371122506 | POMK | c.716G>C (p.Gly239Ala) c.*512G>C (n.*512G>C) c.434G>C (p.Gly145Ala) c.*636G>C (n.*636G>C) c.674G>C (p.Gly225Ala) c.*501G>C (n.*501G>C) | |
| 8 | g.43122540G>T | CA371122505 | POMK | c.716G>T (p.Gly239Val) c.*512G>T (n.*512G>T) c.434G>T (p.Gly145Val) c.*636G>T (n.*636G>T) c.674G>T (p.Gly225Val) c.*501G>T (n.*501G>T) | |
| 8 | g.43122541G>A | CA460787373 | POMK | c.717G>A (p.Gly239=) c.*513G>A (n.*513G>A) c.435G>A (p.Gly145=) c.*637G>A (n.*637G>A) c.675G>A (p.Gly225=) c.*502G>A (n.*502G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.43122541G>C | CA460787374 | POMK | c.717G>C (p.Gly239=) c.*513G>C (n.*513G>C) c.435G>C (p.Gly145=) c.*637G>C (n.*637G>C) c.675G>C (p.Gly225=) c.*502G>C (n.*502G>C) | |
| 8 | g.43122541G= | CA1779747618 | POMK | c.717G= (p.Gly239=) c.*513G= (n.*513G=) c.435G= (p.Gly145=) c.*637G= (n.*637G=) c.675G= (p.Gly225=) c.*502G= (n.*502G=) | |
| 8 | g.43122541G>T | CA460787375 | POMK | c.717G>T (p.Gly239=) c.*513G>T (n.*513G>T) c.435G>T (p.Gly145=) c.*637G>T (n.*637G>T) c.675G>T (p.Gly225=) c.*502G>T (n.*502G>T) | |
| 8 | g.43122542A= | CA1779747620 | POMK | c.718A= (p.Met240=) c.*514A= (n.*514A=) c.436A= (p.Met146=) c.*638A= (n.*638A=) c.676A= (p.Met226=) c.*503A= (n.*503A=) | |
| 8 | g.43122542A>C | CA371122508 | POMK | c.718A>C (p.Met240Leu) c.*514A>C (n.*514A>C) c.436A>C (p.Met146Leu) c.*638A>C (n.*638A>C) c.676A>C (p.Met226Leu) c.*503A>C (n.*503A>C) | |
| 8 | g.43122542A>G | CA371122509 | POMK | c.718A>G (p.Met240Val) c.*514A>G (n.*514A>G) c.436A>G (p.Met146Val) c.*638A>G (n.*638A>G) c.676A>G (p.Met226Val) c.*503A>G (n.*503A>G) | |
| 8 | g.43122542A>T | CA371122510 | POMK | c.718A>T (p.Met240Leu) c.*514A>T (n.*514A>T) c.436A>T (p.Met146Leu) c.*638A>T (n.*638A>T) c.676A>T (p.Met226Leu) c.*503A>T (n.*503A>T) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.43122543T>A | CA371122511 | POMK | c.719T>A (p.Met240Lys) c.*515T>A (n.*515T>A) c.437T>A (p.Met146Lys) c.*639T>A (n.*639T>A) c.677T>A (p.Met226Lys) c.*504T>A (n.*504T>A) | |
| 8 | g.43122543T>C | CA371122512 | POMK | c.719T>C (p.Met240Thr) c.*515T>C (n.*515T>C) c.437T>C (p.Met146Thr) c.*639T>C (n.*639T>C) c.677T>C (p.Met226Thr) c.*504T>C (n.*504T>C) | ClinVar dbSNP gnomAD v4 |
| 8 | g.43122543T>G | CA371122513 | POMK | c.719T>G (p.Met240Arg) c.*515T>G (n.*515T>G) c.437T>G (p.Met146Arg) c.*639T>G (n.*639T>G) c.677T>G (p.Met226Arg) c.*504T>G (n.*504T>G) | gnomAD v4 |
| 8 | g.43122543T= | CA1779747623 | POMK | c.719T= (p.Met240=) c.*515T= (n.*515T=) c.437T= (p.Met146=) c.*639T= (n.*639T=) c.677T= (p.Met226=) c.*504T= (n.*504T=) | |
| 8 | g.43122544G>A | CA371122514 | POMK | c.720G>A (p.Met240Ile) c.*516G>A (n.*516G>A) c.438G>A (p.Met146Ile) c.*640G>A (n.*640G>A) c.678G>A (p.Met226Ile) c.*505G>A (n.*505G>A) | |
| 8 | g.43122544G>C | CA371122515 | POMK | c.720G>C (p.Met240Ile) c.*516G>C (n.*516G>C) c.438G>C (p.Met146Ile) c.*640G>C (n.*640G>C) c.678G>C (p.Met226Ile) c.*505G>C (n.*505G>C) | |
| 8 | g.43122544G>T | CA371122516 | POMK | c.720G>T (p.Met240Ile) c.*516G>T (n.*516G>T) c.438G>T (p.Met146Ile) c.*640G>T (n.*640G>T) c.678G>T (p.Met226Ile) c.*505G>T (n.*505G>T) | |
| 8 | g.43122545C>A | CA371122517 | POMK | c.721C>A (p.Leu241Met) c.*517C>A (n.*517C>A) c.439C>A (p.Leu147Met) c.*641C>A (n.*641C>A) c.679C>A (p.Leu227Met) c.*506C>A (n.*506C>A) | |
| 8 | g.43122545C= | CA1779747626 | POMK | c.721C= (p.Leu241=) c.*517C= (n.*517C=) c.439C= (p.Leu147=) c.*641C= (n.*641C=) c.679C= (p.Leu227=) c.*506C= (n.*506C=) | |
| 8 | g.43122545C>G | CA4736344 | POMK | c.721C>G (p.Leu241Val) c.*517C>G (n.*517C>G) c.439C>G (p.Leu147Val) c.*641C>G (n.*641C>G) c.679C>G (p.Leu227Val) c.*506C>G (n.*506C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.43122545C>T | CA460787386 | POMK | c.721C>T (p.Leu241=) c.*517C>T (n.*517C>T) c.439C>T (p.Leu147=) c.*641C>T (n.*641C>T) c.679C>T (p.Leu227=) c.*506C>T (n.*506C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.43122546T>A | CA371122520 | POMK | c.722T>A (p.Leu241Gln) c.*518T>A (n.*518T>A) c.440T>A (p.Leu147Gln) c.*642T>A (n.*642T>A) c.680T>A (p.Leu227Gln) c.*507T>A (n.*507T>A) | |
| 8 | g.43122546T>C | CA371122519 | POMK | c.722T>C (p.Leu241Pro) c.*518T>C (n.*518T>C) c.440T>C (p.Leu147Pro) c.*642T>C (n.*642T>C) c.680T>C (p.Leu227Pro) c.*507T>C (n.*507T>C) | gnomAD v4 |
| 8 | g.43122546T>G | CA371122518 | POMK | c.722T>G (p.Leu241Arg) c.*518T>G (n.*518T>G) c.440T>G (p.Leu147Arg) c.*642T>G (n.*642T>G) c.680T>G (p.Leu227Arg) c.*507T>G (n.*507T>G) | |
| 8 | g.43122547G>A | CA176080329 | POMK | c.723G>A (p.Leu241=) c.*519G>A (n.*519G>A) c.441G>A (p.Leu147=) c.*643G>A (n.*643G>A) c.681G>A (p.Leu227=) c.*508G>A (n.*508G>A) | dbSNP |
| 8 | g.43122547G>C | CA460787390 | POMK | c.723G>C (p.Leu241=) c.*519G>C (n.*519G>C) c.441G>C (p.Leu147=) c.*643G>C (n.*643G>C) c.681G>C (p.Leu227=) c.*508G>C (n.*508G>C) | |
| 8 | g.43122547G= | CA1779747628 | POMK | c.723G= (p.Leu241=) c.*519G= (n.*519G=) c.441G= (p.Leu147=) c.*643G= (n.*643G=) c.681G= (p.Leu227=) c.*508G= (n.*508G=) | |
| 8 | g.43122547G>T | CA460787388 | POMK | c.723G>T (p.Leu241=) c.*519G>T (n.*519G>T) c.441G>T (p.Leu147=) c.*643G>T (n.*643G>T) c.681G>T (p.Leu227=) c.*508G>T (n.*508G>T) | |
| 8 | g.43122548dup | CA2740095018 | POMK | c.724dup (p.Val242GlyfsTer30) c.*520dup (n.*520dup) c.442dup (p.Val148GlyfsTer30) c.*644dup (n.*644dup) c.682dup (p.Val228GlyfsTer30) c.*509dup (n.*509dup) | ClinVar |