Canonical Allele Identifier: CA409437268

Gene: PCK1

Linked Data

• dbSNP Id: rs554489884
• MyVariant Identifiers: chr20:g.56140475C>T (hg19) ; chr20:g.57565419C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.57565419C>T , CM000682.2:g.57565419C>T	GRCh38
NC_000020.10:g.56140475C>T , CM000682.1:g.56140475C>T	GRCh37
NC_000020.9:g.55573881C>T	NCBI36
NG_008205.1:g.9339C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000319441.6:c.1484C>T MANE Select	ENSP00000319814.4:p.Ala495Val
ENST00000319441.5:c.1484C>T	ENSP00000319814.4:p.Ala495Val
ENST00000467047.1:n.4126C>T
NM_002591.3:c.1484C>T	NP_002582.3:p.Ala495Val
XM_011528839.1:c.1088C>T	XP_011527141.1:p.Ala363Val
XM_024451888.1:c.1088C>T	XP_024307656.1:p.Ala363Val
NM_002591.4:c.1484C>T MANE Select	NP_002582.3:p.Ala495Val