Canonical Allele Identifier: CA119169

Linked Data

ClinVar Variation Id: 7946
dbSNP Id: rs74315328

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.171636131A>G , CM000663.2:g.171636131A>G GRCh38
NC_000001.10:g.171605271A>G , CM000663.1:g.171605271A>G GRCh37
NC_000001.9:g.169871894A>G NCBI36
NG_008859.1:g.21503T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000037502.11:c.1309T>C (MYOC) MANE Select ENSP00000037502.5:p.Tyr437His
ENST00000637303.1:c.235-2499A>G (MYOCOS) ENSP00000490048.1:n.235-2499A>G
ENST00000638471.1:c.*647T>C (MYOC) ENSP00000491206.1:n.*647T>C
ENST00000037502.10:c.1309T>C (MYOC) ENSP00000037502.5:p.Tyr437His
ENST00000614688.1:c.*273T>C (MYOC) ENSP00000478680.1:n.*273T>C
NM_000261.1:c.1309T>C (MYOC) NP_000252.1:p.Tyr437His
NM_000261.2:c.1309T>C (MYOC) MANE Select NP_000252.1:p.Tyr437His