Canonical Allele Identifier: CA343720077
Gene: MYOC HGNC NCBI

Linked Data

ClinVar Variation Id: 1703219
ClinVar RCV Id: RCV002280342

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.171652574G>A , CM000663.2:g.171652574G>A GRCh38
NC_000001.10:g.171621714G>A , CM000663.1:g.171621714G>A GRCh37
NC_000001.9:g.169888337G>A NCBI36
NG_008859.1:g.5060C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000037502.11:c.38C>T MANE Select ENSP00000037502.5:p.Pro13Leu
ENST00000638471.1:c.38C>T ENSP00000491206.1:p.Pro13Leu
ENST00000037502.10:c.38C>T ENSP00000037502.5:p.Pro13Leu
ENST00000614688.1:c.38C>T ENSP00000478680.1:p.Pro13Leu
NM_000261.1:c.38C>T NP_000252.1:p.Pro13Leu
NM_000261.2:c.38C>T MANE Select NP_000252.1:p.Pro13Leu