Canonical Allele Identifier: CA9922421

Gene: PCK1

Linked Data

• ClinVar Variation Id: 898849
• ClinVar RCV Id: RCV001142977
• dbSNP Id: rs768176085
• ExAC: 20:56140544 G / A
• gnomAD v2: 20-56140544-G-A
• gnomAD v3: 20-57565488-G-A
• gnomAD v4: 20-57565488-G-A
• MyVariant Identifiers: chr20:g.56140544G>A (hg19) ; chr20:g.57565488G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.57565488G>A , CM000682.2:g.57565488G>A	GRCh38
NC_000020.10:g.56140544G>A , CM000682.1:g.56140544G>A	GRCh37
NC_000020.9:g.55573950G>A	NCBI36
NG_008205.1:g.9408G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000319441.6:c.1553G>A MANE Select	ENSP00000319814.4:p.Arg518Gln
ENST00000319441.5:c.1553G>A	ENSP00000319814.4:p.Arg518Gln
ENST00000467047.1:n.4195G>A
NM_002591.3:c.1553G>A	NP_002582.3:p.Arg518Gln
XM_011528839.1:c.1157G>A	XP_011527141.1:p.Arg386Gln
XM_024451888.1:c.1157G>A	XP_024307656.1:p.Arg386Gln
NM_002591.4:c.1553G>A MANE Select	NP_002582.3:p.Arg518Gln