Canonical Allele Identifier: CA409435221

Gene: PCK1

Linked Data

• dbSNP Id: rs707555
• gnomAD v4: 20-57562839-G-T
• MyVariant Identifiers: chr20:g.56137895G>T (hg19) ; chr20:g.57562839G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.57562839G>T , CM000682.2:g.57562839G>T	GRCh38
NC_000020.10:g.56137895G>T , CM000682.1:g.56137895G>T	GRCh37
NC_000020.9:g.55571301G>T	NCBI36
NG_008205.1:g.6759G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000319441.6:c.550G>T MANE Select	ENSP00000319814.4:p.Val184Leu
ENST00000319441.5:c.550G>T	ENSP00000319814.4:p.Val184Leu
ENST00000467047.1:n.1760G>T
ENST00000470051.1:n.6G>T
ENST00000498194.1:n.492G>T
NM_002591.3:c.550G>T	NP_002582.3:p.Val184Leu
XM_011528839.1:c.154G>T	XP_011527141.1:p.Val52Leu
XM_024451888.1:c.154G>T	XP_024307656.1:p.Val52Leu
NM_002591.4:c.550G>T MANE Select	NP_002582.3:p.Val184Leu