Canonical Allele Identifier: CA889720
Gene: PGM1 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.63638763C>A
GRCh37 chr1:g.64104434C>A
Revel Score:
ENST00000538673 0.112
ENST00000371084 (MANE Select) 0.112
ENST00000540265 0.112
ENST00000371083 0.112
gnomAD v2:
1:64104434 C / A
gnomAD v3:
1:63638763 C / A
gnomAD v4:
chr1-63638763-C-A
Joint Max Group AF 0.00148707 (EAS)
Genomes Max Group AF 0.00178412 (EAS)
Exomes Max Group AF 0.00134021 (EAS)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.63638763C>A , CM000663.2:g.63638763C>A GRCh38
NC_000001.10:g.64104434C>A , CM000663.1:g.64104434C>A GRCh37
NC_000001.9:g.63877022C>A NCBI36
NG_016966.1:g.50488C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000371084.8:c.1107C>A MANE Select ENSP00000360125.3:p.Ser369Arg
ENST00000650546.1:c.1107C>A ENSP00000497812.1:p.Ser369Arg
ENST00000371083.4:c.1161C>A ENSP00000360124.4:p.Ser387Arg
ENST00000371084.7:c.1107C>A ENSP00000360125.3:p.Ser369Arg
ENST00000540265.5:c.516C>A ENSP00000443449.1:p.Ser172Arg
NM_001172818.1:c.1161C>A NP_001166289.1:p.Ser387Arg
NM_001172819.1:c.516C>A NP_001166290.1:p.Ser172Arg
NM_002633.2:c.1107C>A NP_002624.2:p.Ser369Arg
NM_002633.3:c.1107C>A MANE Select NP_002624.2:p.Ser369Arg
NM_001172819.2:c.516C>A NP_001166290.1:p.Ser172Arg
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