Canonical Allele Identifier: CA889476
Gene: PGM1 HGNC NCBI

Linked Data

ClinVar Variation Id: 445924
ClinVar RCV Id: RCV000514450 RCV001522981
dbSNP Id: rs77043134
ExAC: 1:64089432 G / A
gnomAD v2: 1-64089432-G-A
gnomAD v3: 1-63623761-G-A
gnomAD v4: 1-63623761-G-A
MyVariant Identifiers: chr1:g.64089432G>A (hg19) chr1:g.63623761G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.63623761G>A , CM000663.2:g.63623761G>A GRCh38
NC_000001.10:g.64089432G>A , CM000663.1:g.64089432G>A GRCh37
NC_000001.9:g.63862020G>A NCBI36
NG_016966.1:g.35486G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000371084.8:c.247-5664G>A MANE Select ENSP00000360125.3:n.247-5664G>A
ENST00000650546.1:c.247-5664G>A ENSP00000497812.1:n.247-5664G>A
ENST00000371083.4:c.300+1G>A ENSP00000360124.4:n.300+1G>A
ENST00000371084.7:c.247-5664G>A ENSP00000360125.3:n.247-5664G>A
ENST00000540265.5:c.-345-5664G>A ENSP00000443449.1:n.-345-5664G>A
NM_001172818.1:c.300+1G>A NP_001166289.1:n.300+1G>A
NM_001172819.1:c.-345-5664G>A NP_001166290.1:n.-345-5664G>A
NM_002633.2:c.247-5664G>A NP_002624.2:n.247-5664G>A
NM_002633.3:c.247-5664G>A MANE Select NP_002624.2:n.247-5664G>A
NM_001172819.2:c.-345-5664G>A NP_001166290.1:n.-345-5664G>A
Search 100 bp 5'
Search 100 bp 3'