Canonical Allele Identifier: CA222889

Gene: PYGM

Linked Data

• ClinVar Variation Id: 2312
• ClinVar RCV Id: RCV000002402 ; RCV000081312
• dbSNP Id: rs119103258
• ExAC: 11:64514268 A / G
• gnomAD v2: 11-64514268-A-G
• gnomAD v3: 11-64746796-A-G
• gnomAD v4: 11-64746796-A-G
• MyVariant Identifiers: chr11:g.64514268A>G (hg19) ; chr11:g.64746796A>G (hg38)
• PubMed: PMID:10590419 ; PMID:10681080 ; PMID:11168025 ; PMID:11706962 ; PMID:17221871 ; PMID:17994553 ; PMID:20301518 ; PMID:22250184

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64746796A>G , CM000673.2:g.64746796A>G	GRCh38
NC_000011.9:g.64514268A>G , CM000673.1:g.64514268A>G	GRCh37
NC_000011.8:g.64270844A>G	NCBI36
NG_007574.1:g.3661T>C , LRG_100:g.3661T>C
NG_013018.1:g.18920T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000164139.4:c.2392T>C MANE Select	ENSP00000164139.3:p.Trp798Arg
ENST00000164139.3:c.2392T>C	ENSP00000164139.3:p.Trp798Arg
ENST00000377432.7:c.2128T>C	ENSP00000366650.3:p.Trp710Arg
ENST00000483742.1:n.1745T>C
NM_001164716.1:c.2128T>C	NP_001158188.1:p.Trp710Arg
NM_005609.2:c.2392T>C	NP_005600.1:p.Trp798Arg
NM_005609.3:c.2392T>C	NP_005600.1:p.Trp798Arg
NM_005609.4:c.2392T>C MANE Select	NP_005600.1:p.Trp798Arg