Canonical Allele Identifier: CA9922001

Gene: PCK1

Linked Data

• dbSNP Id: rs761092959
• ExAC: 20:56137747 T / C
• gnomAD v2: 20-56137747-T-C
• gnomAD v4: 20-57562691-T-C
• COSMIC: COSM4775496 ; COSM4775497
• MyVariant Identifiers: chr20:g.56137747T>C (hg19) ; chr20:g.57562691T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.57562691T>C , CM000682.2:g.57562691T>C	GRCh38
NC_000020.10:g.56137747T>C , CM000682.1:g.56137747T>C	GRCh37
NC_000020.9:g.55571153T>C	NCBI36
NG_008205.1:g.6611T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000319441.6:c.407-5T>C MANE Select	ENSP00000319814.4:n.407-5T>C
ENST00000319441.5:c.407-5T>C	ENSP00000319814.4:n.407-5T>C
ENST00000467047.1:n.1612T>C
ENST00000498194.1:n.344T>C
NM_002591.3:c.407-5T>C	NP_002582.3:n.407-5T>C
XM_011528839.1:c.11-5T>C	XP_011527141.1:n.11-5T>C
XM_024451888.1:c.11-5T>C	XP_024307656.1:n.11-5T>C
NM_002591.4:c.407-5T>C MANE Select	NP_002582.3:n.407-5T>C