Canonical Allele Identifier: CA343718021

Gene: MYOC

Linked Data

• MyVariant Identifiers: chr1:g.171621220C>G (hg19) ; chr1:g.171652080C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.171652080C>G , CM000663.2:g.171652080C>G	GRCh38
NC_000001.10:g.171621220C>G , CM000663.1:g.171621220C>G	GRCh37
NC_000001.9:g.169887843C>G	NCBI36
NG_008859.1:g.5554G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000037502.11:c.532G>C MANE Select	ENSP00000037502.5:p.Ala178Pro
ENST00000638471.1:c.130+402G>C	ENSP00000491206.1:n.130+402G>C
ENST00000037502.10:c.532G>C	ENSP00000037502.5:p.Ala178Pro
ENST00000614688.1:c.532G>C	ENSP00000478680.1:p.Ala178Pro
NM_000261.1:c.532G>C	NP_000252.1:p.Ala178Pro
NM_000261.2:c.532G>C MANE Select	NP_000252.1:p.Ala178Pro