Canonical Allele Identifier: CA9922069

Gene: PCK1

Linked Data

• dbSNP Id: rs762530982
• ExAC: 20:56137940 C / T
• gnomAD v4: 20-57562884-C-T
• MyVariant Identifiers: chr20:g.56137940C>T (hg19) ; chr20:g.57562884C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.57562884C>T , CM000682.2:g.57562884C>T	GRCh38
NC_000020.10:g.56137940C>T , CM000682.1:g.56137940C>T	GRCh37
NC_000020.9:g.55571346C>T	NCBI36
NG_008205.1:g.6804C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000319441.6:c.595C>T MANE Select	ENSP00000319814.4:p.Pro199Ser
ENST00000319441.5:c.595C>T	ENSP00000319814.4:p.Pro199Ser
ENST00000467047.1:n.1805C>T
ENST00000470051.1:n.51C>T
ENST00000498194.1:n.537C>T
NM_002591.3:c.595C>T	NP_002582.3:p.Pro199Ser
XM_011528839.1:c.199C>T	XP_011527141.1:p.Pro67Ser
XM_024451888.1:c.199C>T	XP_024307656.1:p.Pro67Ser
NM_002591.4:c.595C>T MANE Select	NP_002582.3:p.Pro199Ser