Canonical Allele Identifier: CA421939634
Gene: MYOC HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.171621427T>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.171652287T>G , CM000663.2:g.171652287T>G GRCh38
NC_000001.10:g.171621427T>G , CM000663.1:g.171621427T>G GRCh37
NC_000001.9:g.169888050T>G NCBI36
NG_008859.1:g.5347A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000037502.11:c.325A>C MANE Select ENSP00000037502.5:p.Arg109=
ENST00000638471.1:c.130+195A>C ENSP00000491206.1:n.130+195A>C
ENST00000037502.10:c.325A>C ENSP00000037502.5:p.Arg109=
ENST00000614688.1:c.325A>C ENSP00000478680.1:p.Arg109=
NM_000261.1:c.325A>C NP_000252.1:p.Arg109=
NM_000261.2:c.325A>C MANE Select NP_000252.1:p.Arg109=
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