Canonical Allele Identifier: CA343723548

Linked Data

dbSNP Id: rs1454443086

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.171636073C>A , CM000663.2:g.171636073C>A GRCh38
NC_000001.10:g.171605213C>A , CM000663.1:g.171605213C>A GRCh37
NC_000001.9:g.169871836C>A NCBI36
NG_008859.1:g.21561G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000037502.11:c.1367G>T (MYOC) MANE Select ENSP00000037502.5:p.Gly456Val
ENST00000637303.1:c.235-2557C>A (MYOCOS) ENSP00000490048.1:n.235-2557C>A
ENST00000638471.1:c.*705G>T (MYOC) ENSP00000491206.1:n.*705G>T
ENST00000037502.10:c.1367G>T (MYOC) ENSP00000037502.5:p.Gly456Val
ENST00000614688.1:c.*331G>T (MYOC) ENSP00000478680.1:n.*331G>T
NM_000261.1:c.1367G>T (MYOC) NP_000252.1:p.Gly456Val
NM_000261.2:c.1367G>T (MYOC) MANE Select NP_000252.1:p.Gly456Val