Canonical Allele Identifier: CA130545
Gene: PGM1 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.63629539G>C
GRCh37 chr1:g.64095210G>C
Revel Score:
ENST00000538673 0.782
ENST00000371084 (MANE Select) 0.782
ENST00000371083 0.782
ClinVar RCV:
RCV000032990
ClinVar Variation:
39771
dbSNP:
398122912
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.63629539G>C , CM000663.2:g.63629539G>C GRCh38
NC_000001.10:g.64095210G>C , CM000663.1:g.64095210G>C GRCh37
NC_000001.9:g.63867798G>C NCBI36
NG_016966.1:g.41264G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000371084.8:c.361G>C MANE Select ENSP00000360125.3:p.Gly121Arg
ENST00000650546.1:c.361G>C ENSP00000497812.1:p.Gly121Arg
ENST00000371083.4:c.415G>C ENSP00000360124.4:p.Gly139Arg
ENST00000371084.7:c.361G>C ENSP00000360125.3:p.Gly121Arg
ENST00000540265.5:c.-231G>C ENSP00000443449.1:n.-231G>C
NM_001172818.1:c.415G>C NP_001166289.1:p.Gly139Arg
NM_001172819.1:c.-231G>C NP_001166290.1:n.-231G>C
NM_002633.2:c.361G>C NP_002624.2:p.Gly121Arg
NM_002633.3:c.361G>C MANE Select NP_002624.2:p.Gly121Arg
NM_001172819.2:c.-231G>C NP_001166290.1:n.-231G>C
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