Canonical Allele Identifier: CA343724331

Linked Data

dbSNP Id: rs1329624632

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.171636241G>A , CM000663.2:g.171636241G>A GRCh38
NC_000001.10:g.171605381G>A , CM000663.1:g.171605381G>A GRCh37
NC_000001.9:g.169872004G>A NCBI36
NG_008859.1:g.21393C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000037502.11:c.1199C>T (MYOC) MANE Select ENSP00000037502.5:p.Ala400Val
ENST00000637303.1:c.235-2389G>A (MYOCOS) ENSP00000490048.1:n.235-2389G>A
ENST00000638471.1:c.*537C>T (MYOC) ENSP00000491206.1:n.*537C>T
ENST00000037502.10:c.1199C>T (MYOC) ENSP00000037502.5:p.Ala400Val
ENST00000614688.1:c.*163C>T (MYOC) ENSP00000478680.1:n.*163C>T
NM_000261.1:c.1199C>T (MYOC) NP_000252.1:p.Ala400Val
NM_000261.2:c.1199C>T (MYOC) MANE Select NP_000252.1:p.Ala400Val