Canonical Allele Identifier: CA381168016
Gene: PYGM HGNC NCBI

Linked Data

ClinVar Variation Id: 2504020
ClinVar RCV Id: RCV003231011
dbSNP Id: rs1176352993
gnomAD v3: 11-64750515-T-C
gnomAD v4: 11-64750515-T-C
MyVariant Identifiers: chr11:g.64517987T>C (hg19) chr11:g.64750515T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64750515T>C , CM000673.2:g.64750515T>C GRCh38
NC_000011.9:g.64517987T>C , CM000673.1:g.64517987T>C GRCh37
NC_000011.8:g.64274563T>C NCBI36
NG_013018.1:g.15201A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000164139.4:c.2038A>G MANE Select ENSP00000164139.3:p.Met680Val
ENST00000164139.3:c.2038A>G ENSP00000164139.3:p.Met680Val
ENST00000377432.7:c.1774A>G ENSP00000366650.3:p.Met592Val
NM_001164716.1:c.1774A>G NP_001158188.1:p.Met592Val
NM_005609.2:c.2038A>G NP_005600.1:p.Met680Val
NM_005609.3:c.2038A>G NP_005600.1:p.Met680Val
NM_005609.4:c.2038A>G MANE Select NP_005600.1:p.Met680Val
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