Canonical Allele Identifier: CA409437188

Gene: PCK1

Linked Data

• MyVariant Identifiers: chr20:g.56140439G>T (hg19) ; chr20:g.57565383G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.57565383G>T , CM000682.2:g.57565383G>T	GRCh38
NC_000020.10:g.56140439G>T , CM000682.1:g.56140439G>T	GRCh37
NC_000020.9:g.55573845G>T	NCBI36
NG_008205.1:g.9303G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000319441.6:c.1448G>T MANE Select	ENSP00000319814.4:p.Arg483Leu
ENST00000319441.5:c.1448G>T	ENSP00000319814.4:p.Arg483Leu
ENST00000467047.1:n.4090G>T
ENST00000485958.1:n.572G>T
NM_002591.3:c.1448G>T	NP_002582.3:p.Arg483Leu
XM_011528839.1:c.1052G>T	XP_011527141.1:p.Arg351Leu
XM_024451888.1:c.1052G>T	XP_024307656.1:p.Arg351Leu
NM_002591.4:c.1448G>T MANE Select	NP_002582.3:p.Arg483Leu