Canonical Allele Identifier: CA2653461445

Gene: PCK1

Linked Data

• gnomAD v4: 20-57564906-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.57564906G>T , CM000682.2:g.57564906G>T	GRCh38
NC_000020.10:g.56139962G>T , CM000682.1:g.56139962G>T	GRCh37
NC_000020.9:g.55573368G>T	NCBI36
NG_008205.1:g.8826G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000319441.6:c.1319-134G>T MANE Select	ENSP00000319814.4:n.1319-134G>T
ENST00000319441.5:c.1319-134G>T	ENSP00000319814.4:n.1319-134G>T
ENST00000467047.1:n.3827G>T
ENST00000485958.1:n.443-134G>T
NM_002591.3:c.1319-134G>T	NP_002582.3:n.1319-134G>T
XM_011528839.1:c.923-134G>T	XP_011527141.1:n.923-134G>T
XM_024451888.1:c.923-134G>T	XP_024307656.1:n.923-134G>T
NM_002591.4:c.1319-134G>T MANE Select	NP_002582.3:n.1319-134G>T