Canonical Allele Identifier: CA889779
Gene: PGM1 HGNC NCBI
COSMIC:
COSM426572 (not active)
COSM1474137 (not active)
MyVariant.info:
GRCh38 chr1:g.63648630T>C
GRCh37 chr1:g.64114301T>C
Revel Score:
ENST00000538673 0.245
ENST00000371084 (MANE Select) 0.245
ENST00000540265 0.245
ENST00000371083 0.245
gnomAD v2:
1:64114301 T / C
gnomAD v3:
1:63648630 T / C
gnomAD v4:
chr1-63648630-T-C
Joint Max Group AF 0.39079445 (AMR)
Genomes Max Group AF 0.32637637 (AMR)
Exomes Max Group AF 0.41082792 (AMR)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.63648630T>C , CM000663.2:g.63648630T>C GRCh38
NC_000001.10:g.64114301T>C , CM000663.1:g.64114301T>C GRCh37
NC_000001.9:g.63886889T>C NCBI36
NG_016966.1:g.60355T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000371084.8:c.1258T>C MANE Select ENSP00000360125.3:p.Tyr420His
ENST00000650546.1:c.1258T>C ENSP00000497812.1:p.Tyr420His
ENST00000371083.4:c.1312T>C ENSP00000360124.4:p.Tyr438His
ENST00000371084.7:c.1258T>C ENSP00000360125.3:p.Tyr420His
ENST00000540265.5:c.667T>C ENSP00000443449.1:p.Tyr223His
NM_001172818.1:c.1312T>C NP_001166289.1:p.Tyr438His
NM_001172819.1:c.667T>C NP_001166290.1:p.Tyr223His
NM_002633.2:c.1258T>C NP_002624.2:p.Tyr420His
NM_002633.3:c.1258T>C MANE Select NP_002624.2:p.Tyr420His
NM_001172819.2:c.667T>C NP_001166290.1:p.Tyr223His
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