Canonical Allele Identifier: CA316282108

Gene: PCK1

Linked Data

• dbSNP Id: rs1048957478
• COSMIC: COSM4414300
• MyVariant Identifiers: chr20:g.56140434C>T (hg19) ; chr20:g.57565378C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.57565378C>T , CM000682.2:g.57565378C>T	GRCh38
NC_000020.10:g.56140434C>T , CM000682.1:g.56140434C>T	GRCh37
NC_000020.9:g.55573840C>T	NCBI36
NG_008205.1:g.9298C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000319441.6:c.1443C>T MANE Select	ENSP00000319814.4:p.Ala481=
ENST00000319441.5:c.1443C>T	ENSP00000319814.4:p.Ala481=
ENST00000467047.1:n.4085C>T
ENST00000485958.1:n.567C>T
NM_002591.3:c.1443C>T	NP_002582.3:p.Ala481=
XM_011528839.1:c.1047C>T	XP_011527141.1:p.Ala349=
XM_024451888.1:c.1047C>T	XP_024307656.1:p.Ala349=
NM_002591.4:c.1443C>T MANE Select	NP_002582.3:p.Ala481=