Canonical Allele Identifier: CA421939397
Gene: MYOC HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.171621737A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.171652597A>G , CM000663.2:g.171652597A>G GRCh38
NC_000001.10:g.171621737A>G , CM000663.1:g.171621737A>G GRCh37
NC_000001.9:g.169888360A>G NCBI36
NG_008859.1:g.5037T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000037502.11:c.15T>C MANE Select ENSP00000037502.5:p.Cys5=
ENST00000638471.1:c.15T>C ENSP00000491206.1:p.Cys5=
ENST00000037502.10:c.15T>C ENSP00000037502.5:p.Cys5=
ENST00000614688.1:c.15T>C ENSP00000478680.1:p.Cys5=
NM_000261.1:c.15T>C NP_000252.1:p.Cys5=
NM_000261.2:c.15T>C MANE Select NP_000252.1:p.Cys5=