Canonical Allele Identifier: CA511310978

Gene: PCK1

Linked Data

• dbSNP Id: rs2070193785
• gnomAD v4: 20-57565415-C-T
• MyVariant Identifiers: chr20:g.56140471C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.57565415C>T , CM000682.2:g.57565415C>T	GRCh38
NC_000020.10:g.56140471C>T , CM000682.1:g.56140471C>T	GRCh37
NC_000020.9:g.55573877C>T	NCBI36
NG_008205.1:g.9335C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000319441.6:c.1480C>T MANE Select	ENSP00000319814.4:p.Leu494=
ENST00000319441.5:c.1480C>T	ENSP00000319814.4:p.Leu494=
ENST00000467047.1:n.4122C>T
NM_002591.3:c.1480C>T	NP_002582.3:p.Leu494=
XM_011528839.1:c.1084C>T	XP_011527141.1:p.Leu362=
XM_024451888.1:c.1084C>T	XP_024307656.1:p.Leu362=
NM_002591.4:c.1480C>T MANE Select	NP_002582.3:p.Leu494=