Canonical Allele Identifier: CA2653460135

Gene: PCK1

Linked Data

• gnomAD v4: 20-57562978-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.57562978C>T , CM000682.2:g.57562978C>T	GRCh38
NC_000020.10:g.56138034C>T , CM000682.1:g.56138034C>T	GRCh37
NC_000020.9:g.55571440C>T	NCBI36
NG_008205.1:g.6898C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000319441.6:c.611-50C>T MANE Select	ENSP00000319814.4:n.611-50C>T
ENST00000319441.5:c.611-50C>T	ENSP00000319814.4:n.611-50C>T
ENST00000467047.1:n.1899C>T
ENST00000470051.1:n.145C>T
ENST00000498194.1:n.553-50C>T
NM_002591.3:c.611-50C>T	NP_002582.3:n.611-50C>T
XM_011528839.1:c.215-50C>T	XP_011527141.1:n.215-50C>T
XM_024451888.1:c.215-50C>T	XP_024307656.1:n.215-50C>T
NM_002591.4:c.611-50C>T MANE Select	NP_002582.3:n.611-50C>T