Canonical Allele Identifier: CA343718550
Gene: MYOC HGNC NCBI

Linked Data

ClinVar Variation Id: 2498109
ClinVar RCV Id: RCV003219170
MyVariant Identifiers: chr1:g.171621387C>G (hg19) chr1:g.171652247C>G (hg38)
ERepo: CA343718550/MONDO:0020367/019
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.171652247C>G , CM000663.2:g.171652247C>G GRCh38
NC_000001.10:g.171621387C>G , CM000663.1:g.171621387C>G GRCh37
NC_000001.9:g.169888010C>G NCBI36
NG_008859.1:g.5387G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000037502.11:c.365G>C MANE Select ENSP00000037502.5:p.Gly122Ala
ENST00000638471.1:c.130+235G>C ENSP00000491206.1:n.130+235G>C
ENST00000037502.10:c.365G>C ENSP00000037502.5:p.Gly122Ala
ENST00000614688.1:c.365G>C ENSP00000478680.1:p.Gly122Ala
NM_000261.1:c.365G>C NP_000252.1:p.Gly122Ala
NM_000261.2:c.365G>C MANE Select NP_000252.1:p.Gly122Ala
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