Canonical Allele Identifier: CA316282201

Gene: PCK1

Linked Data

• dbSNP Id: rs138838198
• MyVariant Identifiers: chr20:g.56140479C>T (hg19) ; chr20:g.57565423C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.57565423C>T , CM000682.2:g.57565423C>T	GRCh38
NC_000020.10:g.56140479C>T , CM000682.1:g.56140479C>T	GRCh37
NC_000020.9:g.55573885C>T	NCBI36
NG_008205.1:g.9343C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000319441.6:c.1488C>T MANE Select	ENSP00000319814.4:p.His496=
ENST00000319441.5:c.1488C>T	ENSP00000319814.4:p.His496=
ENST00000467047.1:n.4130C>T
NM_002591.3:c.1488C>T	NP_002582.3:p.His496=
XM_011528839.1:c.1092C>T	XP_011527141.1:p.His364=
XM_024451888.1:c.1092C>T	XP_024307656.1:p.His364=
NM_002591.4:c.1488C>T MANE Select	NP_002582.3:p.His496=