Canonical Allele Identifier: CA1244015

Linked Data

ClinVar Variation Id: 2500831
ClinVar RCV Id: RCV003226016
dbSNP Id: rs2234929

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.171635976G>A , CM000663.2:g.171635976G>A GRCh38
NC_000001.10:g.171605116G>A , CM000663.1:g.171605116G>A GRCh37
NC_000001.9:g.169871739G>A NCBI36
NG_008859.1:g.21658C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000037502.11:c.1464C>T (MYOC) MANE Select ENSP00000037502.5:p.Ala488=
ENST00000637303.1:c.235-2654G>A (MYOCOS) ENSP00000490048.1:n.235-2654G>A
ENST00000638471.1:c.*802C>T (MYOC) ENSP00000491206.1:n.*802C>T
ENST00000037502.10:c.1464C>T (MYOC) ENSP00000037502.5:p.Ala488=
ENST00000614688.1:c.*428C>T (MYOC) ENSP00000478680.1:n.*428C>T
NM_000261.1:c.1464C>T (MYOC) NP_000252.1:p.Ala488=
NM_000261.2:c.1464C>T (MYOC) MANE Select NP_000252.1:p.Ala488=