Canonical Allele Identifier: CA1244035

Linked Data

ClinVar Variation Id: 875033
dbSNP Id: rs572512491
COSMIC: COSM899599

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.171636095C>T , CM000663.2:g.171636095C>T GRCh38
NC_000001.10:g.171605235C>T , CM000663.1:g.171605235C>T GRCh37
NC_000001.9:g.169871858C>T NCBI36
NG_008859.1:g.21539G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000037502.11:c.1345G>A (MYOC) MANE Select ENSP00000037502.5:p.Val449Ile
ENST00000637303.1:c.235-2535C>T (MYOCOS) ENSP00000490048.1:n.235-2535C>T
ENST00000638471.1:c.*683G>A (MYOC) ENSP00000491206.1:n.*683G>A
ENST00000037502.10:c.1345G>A (MYOC) ENSP00000037502.5:p.Val449Ile
ENST00000614688.1:c.*309G>A (MYOC) ENSP00000478680.1:n.*309G>A
NM_000261.1:c.1345G>A (MYOC) NP_000252.1:p.Val449Ile
NM_000261.2:c.1345G>A (MYOC) MANE Select NP_000252.1:p.Val449Ile