Canonical Allele Identifier: CA511310911

Gene: PCK1

Linked Data

• MyVariant Identifiers: chr20:g.56137897G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.57562841G>T , CM000682.2:g.57562841G>T	GRCh38
NC_000020.10:g.56137897G>T , CM000682.1:g.56137897G>T	GRCh37
NC_000020.9:g.55571303G>T	NCBI36
NG_008205.1:g.6761G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000319441.6:c.552G>T MANE Select	ENSP00000319814.4:p.Val184=
ENST00000319441.5:c.552G>T	ENSP00000319814.4:p.Val184=
ENST00000467047.1:n.1762G>T
ENST00000470051.1:n.8G>T
ENST00000498194.1:n.494G>T
NM_002591.3:c.552G>T	NP_002582.3:p.Val184=
XM_011528839.1:c.156G>T	XP_011527141.1:p.Val52=
XM_024451888.1:c.156G>T	XP_024307656.1:p.Val52=
NM_002591.4:c.552G>T MANE Select	NP_002582.3:p.Val184=