Canonical Allele Identifier: CA119178

Linked Data

ClinVar Variation Id: 7954
dbSNP Id: rs74315336

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.171636173T>C , CM000663.2:g.171636173T>C GRCh38
NC_000001.10:g.171605313T>C , CM000663.1:g.171605313T>C GRCh37
NC_000001.9:g.169871936T>C NCBI36
NG_008859.1:g.21461A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000037502.11:c.1267A>G (MYOC) MANE Select ENSP00000037502.5:p.Lys423Glu
ENST00000637303.1:c.235-2457T>C (MYOCOS) ENSP00000490048.1:n.235-2457T>C
ENST00000638471.1:c.*605A>G (MYOC) ENSP00000491206.1:n.*605A>G
ENST00000037502.10:c.1267A>G (MYOC) ENSP00000037502.5:p.Lys423Glu
ENST00000614688.1:c.*231A>G (MYOC) ENSP00000478680.1:n.*231A>G
NM_000261.1:c.1267A>G (MYOC) NP_000252.1:p.Lys423Glu
NM_000261.2:c.1267A>G (MYOC) MANE Select NP_000252.1:p.Lys423Glu