Canonical Allele Identifier: CA409435017

Gene: PCK1

Linked Data

• dbSNP Id: rs2070158681
• MyVariant Identifiers: chr20:g.56137785G>T (hg19) ; chr20:g.57562729G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.57562729G>T , CM000682.2:g.57562729G>T	GRCh38
NC_000020.10:g.56137785G>T , CM000682.1:g.56137785G>T	GRCh37
NC_000020.9:g.55571191G>T	NCBI36
NG_008205.1:g.6649G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000319441.6:c.440G>T MANE Select	ENSP00000319814.4:p.Gly147Val
ENST00000319441.5:c.440G>T	ENSP00000319814.4:p.Gly147Val
ENST00000467047.1:n.1650G>T
ENST00000498194.1:n.382G>T
NM_002591.3:c.440G>T	NP_002582.3:p.Gly147Val
XM_011528839.1:c.44G>T	XP_011527141.1:p.Gly15Val
XM_024451888.1:c.44G>T	XP_024307656.1:p.Gly15Val
NM_002591.4:c.440G>T MANE Select	NP_002582.3:p.Gly147Val