Canonical Allele Identifier: CA367397188

Gene: GCK

Linked Data

• MyVariant Identifiers: chr7:g.44184850C>A (hg19) ; chr7:g.44145251C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44145251C>A , CM000669.2:g.44145251C>A	GRCh38
NC_000007.13:g.44184850C>A , CM000669.1:g.44184850C>A	GRCh37
NC_000007.12:g.44151375C>A	NCBI36
NG_008847.1:g.49173G>T
NG_008847.2:g.57920G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395796.8:c.*1281G>T	ENSP00000379142.4:n.*1281G>T
ENST00000616242.5:c.*403G>T	ENSP00000482149.2:n.*403G>T
ENST00000683378.1:n.509G>T
ENST00000336642.9:c.317G>T	ENSP00000338009.5:p.Arg106Leu
ENST00000345378.7:c.1286G>T	ENSP00000223366.2:p.Arg429Leu
ENST00000403799.8:c.1283G>T MANE Select	ENSP00000384247.3:p.Arg428Leu
ENST00000671824.1:c.1346G>T	ENSP00000500264.1:p.Arg449Leu
ENST00000672743.1:n.295G>T
ENST00000673284.1:c.1283G>T	ENSP00000499852.1:p.Arg428Leu
ENST00000336642.8:c.335G>T	ENSP00000338009.4:p.Arg112Leu
ENST00000345378.6:c.1286G>T	ENSP00000223366.2:p.Arg429Leu
ENST00000395796.7:c.1280G>T	ENSP00000379142.3:p.Arg427Leu
ENST00000403799.7:c.1283G>T	ENSP00000384247.3:p.Arg428Leu
ENST00000437084.1:c.1232G>T	ENSP00000402840.1:p.Arg411Leu
ENST00000459642.1:n.663G>T
ENST00000616242.4:c.1280G>T	ENSP00000482149.1:p.Arg427Leu
NM_000162.3:c.1283G>T	NP_000153.1:p.Arg428Leu
NM_033507.1:c.1286G>T	NP_277042.1:p.Arg429Leu
NM_033508.1:c.1280G>T	NP_277043.1:p.Arg427Leu
NM_000162.4:c.1283G>T	NP_000153.1:p.Arg428Leu
NM_001354800.1:c.1283G>T	NP_001341729.1:p.Arg428Leu
NM_001354801.1:c.272G>T	NP_001341730.1:p.Arg91Leu
NM_001354802.1:c.143G>T	NP_001341731.1:p.Arg48Leu
NM_001354803.1:c.317G>T	NP_001341732.1:p.Arg106Leu
NM_033507.2:c.1286G>T	NP_277042.1:p.Arg429Leu
NM_033508.2:c.1280G>T	NP_277043.1:p.Arg427Leu
XM_024446707.1:c.143G>T	XP_024302475.1:p.Arg48Leu
NM_000162.5:c.1283G>T MANE Select	NP_000153.1:p.Arg428Leu
NM_033507.3:c.1286G>T	NP_277042.1:p.Arg429Leu
NM_033508.3:c.1280G>T	NP_277043.1:p.Arg427Leu
NM_001354803.2:c.317G>T	NP_001341732.1:p.Arg106Leu