Canonical Allele Identifier: CA32666441
Gene: MYOC HGNC NCBI

Linked Data

dbSNP Id: rs80003669

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.171652199A>C , CM000663.2:g.171652199A>C GRCh38
NC_000001.10:g.171621339A>C , CM000663.1:g.171621339A>C GRCh37
NC_000001.9:g.169887962A>C NCBI36
NG_008859.1:g.5435T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000037502.11:c.413T>G MANE Select ENSP00000037502.5:p.Leu138Trp
ENST00000638471.1:c.130+283T>G ENSP00000491206.1:n.130+283T>G
ENST00000037502.10:c.413T>G ENSP00000037502.5:p.Leu138Trp
ENST00000614688.1:c.413T>G ENSP00000478680.1:p.Leu138Trp
NM_000261.1:c.413T>G NP_000252.1:p.Leu138Trp
NM_000261.2:c.413T>G MANE Select NP_000252.1:p.Leu138Trp