Canonical Allele Identifier: CA123324
Gene: PGM1 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.63629521A>G
GRCh37 chr1:g.64095192A>G
Revel Score:
ENST00000538673 0.929
ENST00000371084 (MANE Select) 0.929
ENST00000371083 0.929
gnomAD v2:
1:64095192 A / G
gnomAD v4:
chr1-63629521-A-G
Joint Max Group AF 0.00000124 (NFE)
Exomes Max Group AF 0.00000132 (NFE)
ClinVar RCV:
RCV000014620
ClinVar Variation:
13650
dbSNP:
121918371
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.63629521A>G , CM000663.2:g.63629521A>G GRCh38
NC_000001.10:g.64095192A>G , CM000663.1:g.64095192A>G GRCh37
NC_000001.9:g.63867780A>G NCBI36
NG_016966.1:g.41246A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000371084.8:c.343A>G MANE Select ENSP00000360125.3:p.Thr115Ala
ENST00000650546.1:c.343A>G ENSP00000497812.1:p.Thr115Ala
ENST00000371083.4:c.397A>G ENSP00000360124.4:p.Thr133Ala
ENST00000371084.7:c.343A>G ENSP00000360125.3:p.Thr115Ala
ENST00000540265.5:c.-249A>G ENSP00000443449.1:n.-249A>G
NM_001172818.1:c.397A>G NP_001166289.1:p.Thr133Ala
NM_001172819.1:c.-249A>G NP_001166290.1:n.-249A>G
NM_002633.2:c.343A>G NP_002624.2:p.Thr115Ala
NM_002633.3:c.343A>G MANE Select NP_002624.2:p.Thr115Ala
NM_001172819.2:c.-249A>G NP_001166290.1:n.-249A>G
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