Canonical Allele Identifier: CA636606517

Gene: PCK1

Linked Data

• dbSNP Id: rs1384559873
• gnomAD v2: 20-56138039-A-G
• gnomAD v4: 20-57562983-A-G
• MyVariant Identifiers: chr20:g.56138039A>G (hg19) ; chr20:g.57562983A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.57562983A>G , CM000682.2:g.57562983A>G	GRCh38
NC_000020.10:g.56138039A>G , CM000682.1:g.56138039A>G	GRCh37
NC_000020.9:g.55571445A>G	NCBI36
NG_008205.1:g.6903A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000319441.6:c.611-45A>G MANE Select	ENSP00000319814.4:n.611-45A>G
ENST00000319441.5:c.611-45A>G	ENSP00000319814.4:n.611-45A>G
ENST00000467047.1:n.1904A>G
ENST00000470051.1:n.150A>G
ENST00000498194.1:n.553-45A>G
NM_002591.3:c.611-45A>G	NP_002582.3:n.611-45A>G
XM_011528839.1:c.215-45A>G	XP_011527141.1:n.215-45A>G
XM_024451888.1:c.215-45A>G	XP_024307656.1:n.215-45A>G
NM_002591.4:c.611-45A>G MANE Select	NP_002582.3:n.611-45A>G