Canonical Allele Identifier: CA889687

Gene: PGM1

Linked Data

• ClinVar Variation Id: 297880
• ClinVar RCV Id: RCV000294565 ; RCV000388782 ; RCV000425152
• dbSNP Id: rs541069522
• ExAC: 1:64102070 C / A
• gnomAD v2: 1-64102070-C-A
• gnomAD v3: 1-63636399-C-A
• gnomAD v4: 1-63636399-C-A
• MyVariant Identifiers: chr1:g.64102070C>A (hg19) ; chr1:g.63636399C>A (hg38)

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