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 |
|---|---|---|---|---|---|
| 1 | g.214657179C>A | CA344857012 | CENPF | c.8555C>A (p.Ser2852Tyr) n.831C>A c.8732C>A (p.Ser2911Tyr) n.503C>A c.7667C>A (p.Ser2556Tyr) | |
| 1 | g.214657179C= | CA2486377652 | CENPF | c.8555C= (p.Ser2852=) n.831C= c.8732C= (p.Ser2911=) n.503C= c.7667C= (p.Ser2556=) | |
| 1 | g.214657179C>G | CA344857013 | CENPF | c.8555C>G (p.Ser2852Cys) n.831C>G c.8732C>G (p.Ser2911Cys) n.503C>G c.7667C>G (p.Ser2556Cys) | |
| 1 | g.214657179C>T | CA1391482 | CENPF | c.8555C>T (p.Ser2852Phe) n.831C>T c.8732C>T (p.Ser2911Phe) n.503C>T c.7667C>T (p.Ser2556Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.214657180T>A | CA423429723 | CENPF | c.8556T>A (p.Ser2852=) n.832T>A c.8733T>A (p.Ser2911=) n.504T>A c.7668T>A (p.Ser2556=) | |
| 1 | g.214657180T>C | CA423429726 | CENPF | c.8556T>C (p.Ser2852=) n.832T>C c.8733T>C (p.Ser2911=) n.504T>C c.7668T>C (p.Ser2556=) | |
| 1 | g.214657180T>G | CA423429728 | CENPF | c.8556T>G (p.Ser2852=) n.832T>G c.8733T>G (p.Ser2911=) n.504T>G c.7668T>G (p.Ser2556=) | |
| 1 | g.214657181C>A | CA344857014 | CENPF | c.8557C>A (p.Pro2853Thr) n.833C>A c.8734C>A (p.Pro2912Thr) n.505C>A c.7669C>A (p.Pro2557Thr) | |
| 1 | g.214657181C= | CA2486377653 | CENPF | c.8557C= (p.Pro2853=) n.833C= c.8734C= (p.Pro2912=) n.505C= c.7669C= (p.Pro2557=) | |
| 1 | g.214657181C>G | CA344857015 | CENPF | c.8557C>G (p.Pro2853Ala) n.833C>G c.8734C>G (p.Pro2912Ala) n.505C>G c.7669C>G (p.Pro2557Ala) | gnomAD v4 |
| 1 | g.214657181C>T | CA1391483 | CENPF | c.8557C>T (p.Pro2853Ser) n.833C>T c.8734C>T (p.Pro2912Ser) n.505C>T c.7669C>T (p.Pro2557Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.214657182C>A | CA344857016 | CENPF | c.8558C>A (p.Pro2853Gln) n.834C>A c.8735C>A (p.Pro2912Gln) n.506C>A c.7670C>A (p.Pro2557Gln) | |
| 1 | g.214657182C>G | CA344857018 | CENPF | c.8558C>G (p.Pro2853Arg) n.834C>G c.8735C>G (p.Pro2912Arg) n.506C>G c.7670C>G (p.Pro2557Arg) | |
| 1 | g.214657182C>T | CA344857017 | CENPF | c.8558C>T (p.Pro2853Leu) n.834C>T c.8735C>T (p.Pro2912Leu) n.506C>T c.7670C>T (p.Pro2557Leu) | |
| 1 | g.214657183A= | CA1141770945 | CENPF | c.8559A= (p.Pro2853=) n.835A= c.8736A= (p.Pro2912=) n.507A= c.7671A= (p.Pro2557=) | |
| 1 | g.214657183A>C | CA1391484 | CENPF | c.8559A>C (p.Pro2853=) n.835A>C c.8736A>C (p.Pro2912=) n.507A>C c.7671A>C (p.Pro2557=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.214657183A>G | CA423429734 | CENPF | c.8559A>G (p.Pro2853=) n.835A>G c.8736A>G (p.Pro2912=) n.507A>G c.7671A>G (p.Pro2557=) | |
| 1 | g.214657183A>T | CA423429735 | CENPF | c.8559A>T (p.Pro2853=) n.835A>T c.8736A>T (p.Pro2912=) n.507A>T c.7671A>T (p.Pro2557=) | |
| 1 | g.214657184A= | CA2486377654 | CENPF | c.8560A= (p.Ile2854=) n.836A= c.8737A= (p.Ile2913=) n.508A= c.7672A= (p.Ile2558=) | |
| 1 | g.214657184A>C | CA344857020 | CENPF | c.8560A>C (p.Ile2854Leu) n.836A>C c.8737A>C (p.Ile2913Leu) n.508A>C c.7672A>C (p.Ile2558Leu) | gnomAD v4 |
| 1 | g.214657184A>G | CA1391485 | CENPF | c.8560A>G (p.Ile2854Val) n.836A>G c.8737A>G (p.Ile2913Val) n.508A>G c.7672A>G (p.Ile2558Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.214657184A>T | CA344857019 | CENPF | c.8560A>T (p.Ile2854Phe) n.836A>T c.8737A>T (p.Ile2913Phe) n.508A>T c.7672A>T (p.Ile2558Phe) | |
| 1 | g.214657185T>A | CA344857021 | CENPF | c.8561T>A (p.Ile2854Asn) n.837T>A c.8738T>A (p.Ile2913Asn) n.509T>A c.7673T>A (p.Ile2558Asn) | |
| 1 | g.214657185T>C | CA344857022 | CENPF | c.8561T>C (p.Ile2854Thr) n.837T>C c.8738T>C (p.Ile2913Thr) n.509T>C c.7673T>C (p.Ile2558Thr) | |
| 1 | g.214657185T>G | CA344857023 | CENPF | c.8561T>G (p.Ile2854Ser) n.837T>G c.8738T>G (p.Ile2913Ser) n.509T>G c.7673T>G (p.Ile2558Ser) | |
| 1 | g.214657186C>A | CA423429743 | CENPF | c.8562C>A (p.Ile2854=) n.838C>A c.8739C>A (p.Ile2913=) n.510C>A c.7674C>A (p.Ile2558=) | dbSNP gnomAD v4 |
| 1 | g.214657186C= | CA2486377655 | CENPF | c.8562C= (p.Ile2854=) n.838C= c.8739C= (p.Ile2913=) n.510C= c.7674C= (p.Ile2558=) | |
| 1 | g.214657186C>G | CA344857024 | CENPF | c.8562C>G (p.Ile2854Met) n.838C>G c.8739C>G (p.Ile2913Met) n.510C>G c.7674C>G (p.Ile2558Met) | gnomAD v4 |
| 1 | g.214657186C>T | CA423429746 | CENPF | c.8562C>T (p.Ile2854=) n.838C>T c.8739C>T (p.Ile2913=) n.510C>T c.7674C>T (p.Ile2558=) | |
| 1 | g.214657187C>A | CA344857025 | CENPF | c.8563C>A (p.Pro2855Thr) n.839C>A c.8740C>A (p.Pro2914Thr) n.511C>A c.7675C>A (p.Pro2559Thr) | |
| 1 | g.214657187C= | CA2486377656 | CENPF | c.8563C= (p.Pro2855=) n.839C= c.8740C= (p.Pro2914=) n.511C= c.7675C= (p.Pro2559=) | |
| 1 | g.214657187C>G | CA344857026 | CENPF | c.8563C>G (p.Pro2855Ala) n.839C>G c.8740C>G (p.Pro2914Ala) n.511C>G c.7675C>G (p.Pro2559Ala) | |
| 1 | g.214657187C>T | CA344857027 | CENPF | c.8563C>T (p.Pro2855Ser) n.839C>T c.8740C>T (p.Pro2914Ser) n.511C>T c.7675C>T (p.Pro2559Ser) | dbSNP gnomAD v4 |
| 1 | g.214657188C>A | CA344857028 | CENPF | c.8564C>A (p.Pro2855His) n.840C>A c.8741C>A (p.Pro2914His) n.512C>A c.7676C>A (p.Pro2559His) | |
| 1 | g.214657188C= | CA2486377657 | CENPF | c.8564C= (p.Pro2855=) n.840C= c.8741C= (p.Pro2914=) n.512C= c.7676C= (p.Pro2559=) | |
| 1 | g.214657188C>G | CA344857029 | CENPF | c.8564C>G (p.Pro2855Arg) n.840C>G c.8741C>G (p.Pro2914Arg) n.512C>G c.7676C>G (p.Pro2559Arg) | |
| 1 | g.214657188C>T | CA344857030 | CENPF | c.8564C>T (p.Pro2855Leu) n.840C>T c.8741C>T (p.Pro2914Leu) n.512C>T c.7676C>T (p.Pro2559Leu) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 1 | g.214657189T>A | CA423429752 | CENPF | c.8565T>A (p.Pro2855=) n.841T>A c.8742T>A (p.Pro2914=) n.513T>A c.7677T>A (p.Pro2559=) | |
| 1 | g.214657189T>C | CA423429753 | CENPF | c.8565T>C (p.Pro2855=) n.841T>C c.8742T>C (p.Pro2914=) n.513T>C c.7677T>C (p.Pro2559=) | COSMIC |
| 1 | g.214657189T>G | CA423429755 | CENPF | c.8565T>G (p.Pro2855=) n.841T>G c.8742T>G (p.Pro2914=) n.513T>G c.7677T>G (p.Pro2559=) | |
| 1 | g.214657190T>A | CA344857033 | CENPF | c.8566T>A (p.Ser2856Thr) n.842T>A c.8743T>A (p.Ser2915Thr) n.514T>A c.7678T>A (p.Ser2560Thr) | |
| 1 | g.214657190T>C | CA344857032 | CENPF | c.8566T>C (p.Ser2856Pro) n.842T>C c.8743T>C (p.Ser2915Pro) n.514T>C c.7678T>C (p.Ser2560Pro) | |
| 1 | g.214657190T>G | CA344857031 | CENPF | c.8566T>G (p.Ser2856Ala) n.842T>G c.8743T>G (p.Ser2915Ala) n.514T>G c.7678T>G (p.Ser2560Ala) | |
| 1 | g.214657191C>A | CA344857034 | CENPF | c.8567C>A (p.Ser2856Tyr) n.843C>A c.8744C>A (p.Ser2915Tyr) n.515C>A c.7679C>A (p.Ser2560Tyr) | |
| 1 | g.214657191C>G | CA344857035 | CENPF | c.8567C>G (p.Ser2856Cys) n.843C>G c.8744C>G (p.Ser2915Cys) n.515C>G c.7679C>G (p.Ser2560Cys) | |
| 1 | g.214657191C>T | CA344857036 | CENPF | c.8567C>T (p.Ser2856Phe) n.843C>T c.8744C>T (p.Ser2915Phe) n.515C>T c.7679C>T (p.Ser2560Phe) | gnomAD v4 |
| 1 | g.214657192T>A | CA1391486 | CENPF | c.8568T>A (p.Ser2856=) n.844T>A c.8745T>A (p.Ser2915=) n.516T>A c.7680T>A (p.Ser2560=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.214657192T>C | CA423429760 | CENPF | c.8568T>C (p.Ser2856=) n.844T>C c.8745T>C (p.Ser2915=) n.516T>C c.7680T>C (p.Ser2560=) | |
| 1 | g.214657192T>G | CA423429759 | CENPF | c.8568T>G (p.Ser2856=) n.844T>G c.8745T>G (p.Ser2915=) n.516T>G c.7680T>G (p.Ser2560=) | |
| 1 | g.214657192T= | CA2486377658 | CENPF | c.8568T= (p.Ser2856=) n.844T= c.8745T= (p.Ser2915=) n.516T= c.7680T= (p.Ser2560=) |