Canonical Allele Identifier: CA889930
Gene: PGM1 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.63659583C>T
GRCh37 chr1:g.64125254C>T
gnomAD v2:
1:64125254 C / T
gnomAD v3:
1:63659583 C / T
gnomAD v4:
chr1-63659583-C-T
Joint Max Group AF 0.00020217 (NFE)
Genomes Max Group AF 0.00013497 (NFE)
Exomes Max Group AF 0.00020191 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.63659583C>T , CM000663.2:g.63659583C>T GRCh38
NC_000001.10:g.64125254C>T , CM000663.1:g.64125254C>T GRCh37
NC_000001.9:g.63897842C>T NCBI36
NG_016966.1:g.71308C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000371084.8:c.1600-3C>T MANE Select ENSP00000360125.3:n.1600-3C>T
ENST00000650546.1:c.1722-3C>T ENSP00000497812.1:n.1722-3C>T
ENST00000371083.4:c.1654-3C>T ENSP00000360124.4:n.1654-3C>T
ENST00000371084.7:c.1600-3C>T ENSP00000360125.3:n.1600-3C>T
ENST00000540265.5:c.1009-3C>T ENSP00000443449.1:n.1009-3C>T
NM_001172818.1:c.1654-3C>T NP_001166289.1:n.1654-3C>T
NM_001172819.1:c.1009-3C>T NP_001166290.1:n.1009-3C>T
NM_002633.2:c.1600-3C>T NP_002624.2:n.1600-3C>T
NM_002633.3:c.1600-3C>T MANE Select NP_002624.2:n.1600-3C>T
NM_001172819.2:c.1009-3C>T NP_001166290.1:n.1009-3C>T
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