Canonical Allele Identifier: CA367397183

Gene: GCK

Linked Data

• MyVariant Identifiers: chr7:g.44184848T>A (hg19) ; chr7:g.44145249T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44145249T>A , CM000669.2:g.44145249T>A	GRCh38
NC_000007.13:g.44184848T>A , CM000669.1:g.44184848T>A	GRCh37
NC_000007.12:g.44151373T>A	NCBI36
NG_008847.1:g.49175A>T
NG_008847.2:g.57922A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395796.8:c.*1283A>T	ENSP00000379142.4:n.*1283A>T
ENST00000616242.5:c.*405A>T	ENSP00000482149.2:n.*405A>T
ENST00000683378.1:n.511A>T
ENST00000336642.9:c.319A>T	ENSP00000338009.5:p.Arg107Trp
ENST00000345378.7:c.1288A>T	ENSP00000223366.2:p.Arg430Trp
ENST00000403799.8:c.1285A>T MANE Select	ENSP00000384247.3:p.Arg429Trp
ENST00000671824.1:c.1348A>T	ENSP00000500264.1:p.Arg450Trp
ENST00000672743.1:n.297A>T
ENST00000673284.1:c.1285A>T	ENSP00000499852.1:p.Arg429Trp
ENST00000336642.8:c.337A>T	ENSP00000338009.4:p.Arg113Trp
ENST00000345378.6:c.1288A>T	ENSP00000223366.2:p.Arg430Trp
ENST00000395796.7:c.1282A>T	ENSP00000379142.3:p.Arg428Trp
ENST00000403799.7:c.1285A>T	ENSP00000384247.3:p.Arg429Trp
ENST00000437084.1:c.1234A>T	ENSP00000402840.1:p.Arg412Trp
ENST00000459642.1:n.665A>T
ENST00000616242.4:c.1282A>T	ENSP00000482149.1:p.Arg428Trp
NM_000162.3:c.1285A>T	NP_000153.1:p.Arg429Trp
NM_033507.1:c.1288A>T	NP_277042.1:p.Arg430Trp
NM_033508.1:c.1282A>T	NP_277043.1:p.Arg428Trp
NM_000162.4:c.1285A>T	NP_000153.1:p.Arg429Trp
NM_001354800.1:c.1285A>T	NP_001341729.1:p.Arg429Trp
NM_001354801.1:c.274A>T	NP_001341730.1:p.Arg92Trp
NM_001354802.1:c.145A>T	NP_001341731.1:p.Arg49Trp
NM_001354803.1:c.319A>T	NP_001341732.1:p.Arg107Trp
NM_033507.2:c.1288A>T	NP_277042.1:p.Arg430Trp
NM_033508.2:c.1282A>T	NP_277043.1:p.Arg428Trp
XM_024446707.1:c.145A>T	XP_024302475.1:p.Arg49Trp
NM_000162.5:c.1285A>T MANE Select	NP_000153.1:p.Arg429Trp
NM_033507.3:c.1288A>T	NP_277042.1:p.Arg430Trp
NM_033508.3:c.1282A>T	NP_277043.1:p.Arg428Trp
NM_001354803.2:c.319A>T	NP_001341732.1:p.Arg107Trp