Canonical Allele Identifier: CA119185

Linked Data

ClinVar Variation Id: 7960
dbSNP Id: rs74315341

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.171636686C>T , CM000663.2:g.171636686C>T GRCh38
NC_000001.10:g.171605826C>T , CM000663.1:g.171605826C>T GRCh37
NC_000001.9:g.169872449C>T NCBI36
NG_008859.1:g.20948G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000037502.11:c.754G>A (MYOC) MANE Select ENSP00000037502.5:p.Gly252Arg
ENST00000637303.1:c.235-1944C>T (MYOCOS) ENSP00000490048.1:n.235-1944C>T
ENST00000638471.1:c.*92G>A (MYOC) ENSP00000491206.1:n.*92G>A
ENST00000037502.10:c.754G>A (MYOC) ENSP00000037502.5:p.Gly252Arg
ENST00000614688.1:c.754G>A (MYOC) ENSP00000478680.1:p.Gly252Arg
NM_000261.1:c.754G>A (MYOC) NP_000252.1:p.Gly252Arg
NM_000261.2:c.754G>A (MYOC) MANE Select NP_000252.1:p.Gly252Arg