Canonical Allele Identifier: CA889687
Gene: PGM1 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.63636399C>A
GRCh37 chr1:g.64102070C>A
gnomAD v2:
1:64102070 C / A
gnomAD v3:
1:63636399 C / A
gnomAD v4:
chr1-63636399-C-A
Joint Max Group AF 0.00020946 (AFR)
Genomes Max Group AF 0.00025995 (AFR)
Exomes Max Group AF 0.00007715 (AFR)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.63636399C>A , CM000663.2:g.63636399C>A GRCh38
NC_000001.10:g.64102070C>A , CM000663.1:g.64102070C>A GRCh37
NC_000001.9:g.63874658C>A NCBI36
NG_016966.1:g.48124C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000371084.8:c.1028+11C>A MANE Select ENSP00000360125.3:n.1028+11C>A
ENST00000650546.1:c.1028+11C>A ENSP00000497812.1:n.1028+11C>A
ENST00000371083.4:c.1082+11C>A ENSP00000360124.4:n.1082+11C>A
ENST00000371084.7:c.1028+11C>A ENSP00000360125.3:n.1028+11C>A
ENST00000540265.5:c.437+11C>A ENSP00000443449.1:n.437+11C>A
NM_001172818.1:c.1082+11C>A NP_001166289.1:n.1082+11C>A
NM_001172819.1:c.437+11C>A NP_001166290.1:n.437+11C>A
NM_002633.2:c.1028+11C>A NP_002624.2:n.1028+11C>A
NM_002633.3:c.1028+11C>A MANE Select NP_002624.2:n.1028+11C>A
NM_001172819.2:c.437+11C>A NP_001166290.1:n.437+11C>A
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