Canonical Allele Identifier: CA409437176

Gene: PCK1

Linked Data

• dbSNP Id: rs2146530817
• gnomAD v4: 20-57565377-C-T
• MyVariant Identifiers: chr20:g.56140433C>T (hg19) ; chr20:g.57565377C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.57565377C>T , CM000682.2:g.57565377C>T	GRCh38
NC_000020.10:g.56140433C>T , CM000682.1:g.56140433C>T	GRCh37
NC_000020.9:g.55573839C>T	NCBI36
NG_008205.1:g.9297C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000319441.6:c.1442C>T MANE Select	ENSP00000319814.4:p.Ala481Val
ENST00000319441.5:c.1442C>T	ENSP00000319814.4:p.Ala481Val
ENST00000467047.1:n.4084C>T
ENST00000485958.1:n.566C>T
NM_002591.3:c.1442C>T	NP_002582.3:p.Ala481Val
XM_011528839.1:c.1046C>T	XP_011527141.1:p.Ala349Val
XM_024451888.1:c.1046C>T	XP_024307656.1:p.Ala349Val
NM_002591.4:c.1442C>T MANE Select	NP_002582.3:p.Ala481Val