Canonical Allele Identifier: CA745920924

Gene: PCK1

Linked Data

• dbSNP Id: rs756582445
• gnomAD v3: 20-57562991-C-G
• gnomAD v4: 20-57562991-C-G
• MyVariant Identifiers: chr20:g.56138047C>G (hg19) ; chr20:g.57562991C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.57562991C>G , CM000682.2:g.57562991C>G	GRCh38
NC_000020.10:g.56138047C>G , CM000682.1:g.56138047C>G	GRCh37
NC_000020.9:g.55571453C>G	NCBI36
NG_008205.1:g.6911C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000319441.6:c.611-37C>G MANE Select	ENSP00000319814.4:n.611-37C>G
ENST00000319441.5:c.611-37C>G	ENSP00000319814.4:n.611-37C>G
ENST00000467047.1:n.1912C>G
ENST00000470051.1:n.158C>G
ENST00000498194.1:n.553-37C>G
NM_002591.3:c.611-37C>G	NP_002582.3:n.611-37C>G
XM_011528839.1:c.215-37C>G	XP_011527141.1:n.215-37C>G
XM_024451888.1:c.215-37C>G	XP_024307656.1:n.215-37C>G
NM_002591.4:c.611-37C>G MANE Select	NP_002582.3:n.611-37C>G