Canonical Allele Identifier: CA1244164

Linked Data

ClinVar Variation Id: 1342209
ClinVar RCV Id: RCV001838876
dbSNP Id: rs757769997

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.171636709C>A , CM000663.2:g.171636709C>A GRCh38
NC_000001.10:g.171605849C>A , CM000663.1:g.171605849C>A GRCh37
NC_000001.9:g.169872472C>A NCBI36
NG_008859.1:g.20925G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000037502.11:c.731G>T (MYOC) MANE Select ENSP00000037502.5:p.Gly244Val
ENST00000637303.1:c.235-1921C>A (MYOCOS) ENSP00000490048.1:n.235-1921C>A
ENST00000638471.1:c.*69G>T (MYOC) ENSP00000491206.1:n.*69G>T
ENST00000037502.10:c.731G>T (MYOC) ENSP00000037502.5:p.Gly244Val
ENST00000614688.1:c.731G>T (MYOC) ENSP00000478680.1:p.Gly244Val
NM_000261.1:c.731G>T (MYOC) NP_000252.1:p.Gly244Val
NM_000261.2:c.731G>T (MYOC) MANE Select NP_000252.1:p.Gly244Val