Canonical Allele Identifier: CA1244048

Linked Data

ClinVar Variation Id: 2429758
ClinVar RCV Id: RCV003127211
dbSNP Id: rs555328498

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.171636150G>A , CM000663.2:g.171636150G>A GRCh38
NC_000001.10:g.171605290G>A , CM000663.1:g.171605290G>A GRCh37
NC_000001.9:g.169871913G>A NCBI36
NG_008859.1:g.21484C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000037502.11:c.1290C>T (MYOC) MANE Select ENSP00000037502.5:p.Phe430=
ENST00000637303.1:c.235-2480G>A (MYOCOS) ENSP00000490048.1:n.235-2480G>A
ENST00000638471.1:c.*628C>T (MYOC) ENSP00000491206.1:n.*628C>T
ENST00000037502.10:c.1290C>T (MYOC) ENSP00000037502.5:p.Phe430=
ENST00000614688.1:c.*254C>T (MYOC) ENSP00000478680.1:n.*254C>T
NM_000261.1:c.1290C>T (MYOC) NP_000252.1:p.Phe430=
NM_000261.2:c.1290C>T (MYOC) MANE Select NP_000252.1:p.Phe430=