Canonical Allele Identifier: CA9922438
Gene: PCK1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 338891
ClinVar RCV Id: RCV000321976
dbSNP Id: rs148684857

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.57565577G>A , CM000682.2:g.57565577G>A GRCh38
NC_000020.10:g.56140633G>A , CM000682.1:g.56140633G>A GRCh37
NC_000020.9:g.55574039G>A NCBI36
NG_008205.1:g.9497G>A

Transcript Alleles

HGVS Amino-acid change
NM_002591.3:c.1642G>A VV NP_002582.3:p.Ala548Thr
XM_011528839.1:c.1246G>A XP_011527141.1:p.Ala416Thr
XM_024451888.1:c.1246G>A XP_024307656.1:p.Ala416Thr
NM_002591.4:c.1642G>A VV MANE Preferred NP_002582.3:p.Ala548Thr
ENST00000319441.5:c.1642G>A ENSP00000319814.4:p.Ala548Thr
ENST00000467047.1:n.4284G>A