Canonical Allele Identifier: CA511311050

Gene: PCK1

Linked Data

• dbSNP Id: rs1231034159
• gnomAD v4: 20-57565546-G-T
• MyVariant Identifiers: chr20:g.56140602G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.57565546G>T , CM000682.2:g.57565546G>T	GRCh38
NC_000020.10:g.56140602G>T , CM000682.1:g.56140602G>T	GRCh37
NC_000020.9:g.55574008G>T	NCBI36
NG_008205.1:g.9466G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000319441.6:c.1611G>T MANE Select	ENSP00000319814.4:p.Leu537=
ENST00000319441.5:c.1611G>T	ENSP00000319814.4:p.Leu537=
ENST00000467047.1:n.4253G>T
NM_002591.3:c.1611G>T	NP_002582.3:p.Leu537=
XM_011528839.1:c.1215G>T	XP_011527141.1:p.Leu405=
XM_024451888.1:c.1215G>T	XP_024307656.1:p.Leu405=
NM_002591.4:c.1611G>T MANE Select	NP_002582.3:p.Leu537=