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.
Linked Data
ClinVar Variation Id:
2858003
ClinVar RCV Id:
RCV003648564
gnomAD v4:
16-28482501-G-C
MyVariant Identifiers:
chr16:g.28493822G>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.28482501G>C , CM000678.2:g.28482501G>C | GRCh38 |
| NC_000016.9:g.28493822G>C , CM000678.1:g.28493822G>C | GRCh37 |
| NC_000016.8:g.28401323G>C | NCBI36 |
| NG_008654.2:g.14802C>G , LRG_689:g.14802C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000333496.14:c.810C>G | ENSP00000329171.9:p.Ala270= | |
| ENST00000355477.10:c.738C>G | ENSP00000347660.7:p.Ala246= | |
| ENST00000357857.14:c.720C>G | ENSP00000350523.9:p.Ala240= | |
| ENST00000359984.12:c.882C>G | ENSP00000353073.9:p.Ala294= | |
| ENST00000360019.8:c.810C>G | ENSP00000353116.3:p.Ala270= | |
| ENST00000395653.9:c.423C>G | ENSP00000379014.5:p.Ala141= | |
| ENST00000561689.6:n.1167C>G | ||
| ENST00000564091.6:c.222C>G | ENSP00000454466.2:p.Ala74= | |
| ENST00000565316.6:c.855+107C>G | ENSP00000456117.1:n.855+107C>G | |
| ENST00000566824.6:n.942C>G | ||
| ENST00000567963.6:c.720C>G | ENSP00000455387.2:p.Ala240= | |
| ENST00000568076.6:n.1089C>G | ||
| ENST00000568422.6:c.*119C>G | ENSP00000455549.2:n.*119C>G | |
| ENST00000568452.6:n.985C>G | ||
| ENST00000568472.6:n.838C>G | ||
| ENST00000568497.6:c.-88C>G | ENSP00000456414.2:n.-88C>G | |
| ENST00000569430.7:c.882C>G | ENSP00000454229.1:p.Ala294= | |
| ENST00000628023.3:c.*178C>G | ENSP00000486178.1:n.*178C>G | |
| ENST00000635861.1:c.*406C>G | ENSP00000490034.1:n.*406C>G | |
| ENST00000635887.1:c.882C>G | ENSP00000490709.1:p.Ala294= | |
| ENST00000635958.1:n.1073C>G | ||
| ENST00000635973.1:c.633C>G | ENSP00000490363.1:p.Ala211= | |
| ENST00000636017.1:c.*406C>G | ENSP00000490538.1:n.*406C>G | |
| ENST00000636078.1:n.1004C>G | ||
| ENST00000636147.2:c.882C>G MANE Select | ENSP00000490105.1:p.Ala294= | |
| ENST00000636172.1:c.*406C>G | ENSP00000490505.1:n.*406C>G | |
| ENST00000636228.1:c.576C>G | ENSP00000489627.1:p.Ala192= | |
| ENST00000636351.1:n.682C>G | ||
| ENST00000636503.1:c.882C>G | ENSP00000489824.1:p.Ala294= | |
| ENST00000636685.1:n.469C>G | ||
| ENST00000636766.1:c.882C>G | ENSP00000489841.1:p.Ala294= | |
| ENST00000636839.1:n.1034C>G | ||
| ENST00000636853.1:n.1797C>G | ||
| ENST00000636866.1:c.882C>G | ENSP00000490880.1:p.Ala294= | |
| ENST00000636907.1:n.1033C>G | ||
| ENST00000636977.1:n.2030C>G | ||
| ENST00000637050.1:n.1049C>G | ||
| ENST00000637100.1:c.855+107C>G | ENSP00000490394.1:n.855+107C>G | |
| ENST00000637107.1:c.*406C>G | ENSP00000490248.1:n.*406C>G | |
| ENST00000637184.1:c.882C>G | ENSP00000489952.1:p.Ala294= | |
| ENST00000637299.1:c.*691C>G | ENSP00000489823.1:n.*691C>G | |
| ENST00000637376.1:c.882C>G | ENSP00000490758.1:p.Ala294= | |
| ENST00000637378.1:c.54C>G | ENSP00000490831.1:p.Ala18= | |
| ENST00000637578.1:c.*406C>G | ENSP00000490206.1:n.*406C>G | |
| ENST00000637699.1:c.665C>G | ENSP00000490049.1:n.665C>G | |
| ENST00000637745.1:c.221C>G | ||
| ENST00000637871.1:c.*486C>G | ENSP00000490670.1:n.*486C>G | |
| ENST00000638036.1:c.44C>G | ||
| ENST00000333496.13:c.810C>G | ENSP00000329171.9:p.Ala270= | |
| ENST00000355477.9:c.*119C>G | ENSP00000347660.6:n.*119C>G | |
| ENST00000357806.11:c.585C>G | ENSP00000350457.7:p.Ala195= | |
| ENST00000357857.13:c.720C>G | ENSP00000350523.9:p.Ala240= | |
| ENST00000359984.11:c.576C>G | ENSP00000353073.8:p.Ala192= | |
| ENST00000360019.6:c.882C>G | ENSP00000353116.2:p.Ala294= | |
| ENST00000395653.8:c.582C>G | ENSP00000379014.4:p.Ala194= | |
| ENST00000561689.5:n.723C>G | ||
| ENST00000563874.5:n.2316C>G | ||
| ENST00000564574.5:n.930C>G | ||
| ENST00000565140.5:c.665C>G | ENSP00000455342.1:n.665C>G | |
| ENST00000565316.5:c.855+107C>G | ENSP00000456117.1:n.855+107C>G | |
| ENST00000565354.5:n.101C>G | ||
| ENST00000566057.5:c.496C>G | ENSP00000456693.1:n.496C>G | |
| ENST00000567495.5:c.*119C>G | ENSP00000456013.1:n.*119C>G | |
| ENST00000567963.5:c.882C>G | ENSP00000455387.1:p.Ala294= | |
| ENST00000568076.5:n.665C>G | ||
| ENST00000568224.4:c.648C>G | ENSP00000454253.1:p.Ala216= | |
| ENST00000568422.5:c.*119C>G | ENSP00000455549.1:n.*119C>G | |
| ENST00000568452.5:n.882C>G | ||
| ENST00000568472.5:n.362C>G | ||
| ENST00000568497.5:c.*178C>G | ENSP00000456414.1:n.*178C>G | |
| ENST00000568558.5:c.423C>G | ENSP00000455603.1:p.Ala141= | |
| ENST00000569030.5:c.552C>G | ENSP00000454680.1:p.Ala184= | |
| ENST00000569430.5:c.882C>G | ENSP00000454229.1:p.Ala294= | |
| ENST00000628023.2:c.*178C>G | ENSP00000486178.1:n.*178C>G | |
| ENST00000631023.2:c.882C>G | ENSP00000486616.1:p.Ala294= | |
| NM_000086.2:c.882C>G , LRG_689t1:c.882C>G | NP_000077.1:p.Ala294= | |
| NM_001042432.1:c.882C>G , LRG_689t2:c.882C>G | NP_001035897.1:p.Ala294= | |
| NM_001286104.1:c.810C>G | NP_001273033.1:p.Ala270= | |
| NM_001286105.1:c.582C>G | NP_001273034.1:p.Ala194= | |
| NM_001286109.1:c.648C>G | NP_001273038.1:p.Ala216= | |
| NM_001286110.1:c.720C>G | NP_001273039.1:p.Ala240= | |
| NM_001042432.2:c.882C>G MANE Select | NP_001035897.1:p.Ala294= | |
| NM_001286104.2:c.810C>G | NP_001273033.1:p.Ala270= | |
| NM_001286105.2:c.582C>G | NP_001273034.1:p.Ala194= | |
| NM_001286109.2:c.648C>G | NP_001273038.1:p.Ala216= | |
| NM_001286110.2:c.720C>G | NP_001273039.1:p.Ala240= |