Canonical Allele Identifier: CA119171
Gene: MYOC HGNC NCBI

Linked Data

ClinVar Variation Id: 7948
dbSNP Id: rs74315330

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.171636331G>A , CM000663.2:g.171636331G>A GRCh38
NC_000001.10:g.171605471G>A , CM000663.1:g.171605471G>A GRCh37
NC_000001.9:g.169872094G>A NCBI36
NG_008859.1:g.21303C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000037502.11:c.1109C>T MANE Select ENSP00000037502.5:p.Pro370Leu
ENST00000637303.1:c.235-2299G>A ENSP00000490048.1:p.=
ENST00000638471.1:c.*447C>T ENSP00000491206.1:p.=
ENST00000037502.10:c.1109C>T ENSP00000037502.5:p.Pro370Leu
ENST00000614688.1:c.*73C>T ENSP00000478680.1:p.=
NM_000261.1:c.1109C>T NP_000252.1:p.Pro370Leu
NM_000261.2:c.1109C>T MANE Select NP_000252.1:p.Pro370Leu