Canonical Allele Identifier: CA889820
Gene: PGM1 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.63651788C>A
GRCh37 chr1:g.64117459C>A
Revel Score:
ENST00000538673 0.110
ENST00000371084 (MANE Select) 0.110
ENST00000540265 0.110
ENST00000371083 0.110
gnomAD v2:
1:64117459 C / A
gnomAD v3:
1:63651788 C / A
gnomAD v4:
chr1-63651788-C-A
Joint Max Group AF 0.0002392 (NFE)
Genomes Max Group AF 0.00035402 (NFE)
Exomes Max Group AF 0.00022558 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.63651788C>A , CM000663.2:g.63651788C>A GRCh38
NC_000001.10:g.64117459C>A , CM000663.1:g.64117459C>A GRCh37
NC_000001.9:g.63890047C>A NCBI36
NG_016966.1:g.63513C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000371084.8:c.1400C>A MANE Select ENSP00000360125.3:p.Thr467Asn
ENST00000650546.1:c.1400C>A ENSP00000497812.1:p.Thr467Asn
ENST00000371083.4:c.1454C>A ENSP00000360124.4:p.Thr485Asn
ENST00000371084.7:c.1400C>A ENSP00000360125.3:p.Thr467Asn
ENST00000483707.1:n.434C>A
ENST00000540265.5:c.809C>A ENSP00000443449.1:p.Thr270Asn
NM_001172818.1:c.1454C>A NP_001166289.1:p.Thr485Asn
NM_001172819.1:c.809C>A NP_001166290.1:p.Thr270Asn
NM_002633.2:c.1400C>A NP_002624.2:p.Thr467Asn
NM_002633.3:c.1400C>A MANE Select NP_002624.2:p.Thr467Asn
NM_001172819.2:c.809C>A NP_001166290.1:p.Thr270Asn
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