Canonical Allele Identifier: CA222886
Gene: PYGM HGNC NCBI
ClinVar RCV:
RCV000723589
RCV000763760
RCV002227444
ClinVar Variation:
95295
dbSNP:
61736659
gnomAD v2:
11:64518809 G / C
gnomAD v3:
11:64751337 G / C
gnomAD v4:
chr11-64751337-G-C
Joint Max Group AF 0.00008258 (NFE)
Genomes Max Group AF 0.00005842 (NFE)
Exomes Max Group AF 0.00008124 (NFE)
MyVariant.info:
GRCh38 chr11:g.64751337G>C
GRCh37 chr11:g.64518809G>C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64751337G>C , CM000673.2:g.64751337G>C GRCh38
NC_000011.9:g.64518809G>C , CM000673.1:g.64518809G>C GRCh37
NC_000011.8:g.64275385G>C NCBI36
NG_013018.1:g.14379C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000164139.4:c.1957C>G MANE Select ENSP00000164139.3:p.Leu653Val
ENST00000164139.3:c.1957C>G ENSP00000164139.3:p.Leu653Val
ENST00000377432.7:c.1693C>G ENSP00000366650.3:p.Leu565Val
ENST00000462303.1:n.281C>G
NM_001164716.1:c.1693C>G NP_001158188.1:p.Leu565Val
NM_005609.2:c.1957C>G NP_005600.1:p.Leu653Val
NM_005609.3:c.1957C>G NP_005600.1:p.Leu653Val
NM_005609.4:c.1957C>G MANE Select NP_005600.1:p.Leu653Val
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