Canonical Allele Identifier: CA511310979

Gene: PCK1

Linked Data

• MyVariant Identifiers: chr20:g.56140473G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.57565417G>T , CM000682.2:g.57565417G>T	GRCh38
NC_000020.10:g.56140473G>T , CM000682.1:g.56140473G>T	GRCh37
NC_000020.9:g.55573879G>T	NCBI36
NG_008205.1:g.9337G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000319441.6:c.1482G>T MANE Select	ENSP00000319814.4:p.Leu494=
ENST00000319441.5:c.1482G>T	ENSP00000319814.4:p.Leu494=
ENST00000467047.1:n.4124G>T
NM_002591.3:c.1482G>T	NP_002582.3:p.Leu494=
XM_011528839.1:c.1086G>T	XP_011527141.1:p.Leu362=
XM_024451888.1:c.1086G>T	XP_024307656.1:p.Leu362=
NM_002591.4:c.1482G>T MANE Select	NP_002582.3:p.Leu494=