Canonical Allele Identifier: CA454606691

Gene: GCK

Linked Data

• MyVariant Identifiers: chr7:g.44184843C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44145244C>G , CM000669.2:g.44145244C>G	GRCh38
NC_000007.13:g.44184843C>G , CM000669.1:g.44184843C>G	GRCh37
NC_000007.12:g.44151368C>G	NCBI36
NG_008847.1:g.49180G>C
NG_008847.2:g.57927G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395796.8:c.*1288G>C	ENSP00000379142.4:n.*1288G>C
ENST00000616242.5:c.*410G>C	ENSP00000482149.2:n.*410G>C
ENST00000683378.1:n.516G>C
ENST00000336642.9:c.324G>C	ENSP00000338009.5:p.Leu108=
ENST00000345378.7:c.1293G>C	ENSP00000223366.2:p.Leu431=
ENST00000403799.8:c.1290G>C MANE Select	ENSP00000384247.3:p.Leu430=
ENST00000671824.1:c.1353G>C	ENSP00000500264.1:p.Leu451=
ENST00000672743.1:n.302G>C
ENST00000673284.1:c.1290G>C	ENSP00000499852.1:p.Leu430=
ENST00000336642.8:c.342G>C	ENSP00000338009.4:p.Leu114=
ENST00000345378.6:c.1293G>C	ENSP00000223366.2:p.Leu431=
ENST00000395796.7:c.1287G>C	ENSP00000379142.3:p.Leu429=
ENST00000403799.7:c.1290G>C	ENSP00000384247.3:p.Leu430=
ENST00000437084.1:c.1239G>C	ENSP00000402840.1:p.Leu413=
ENST00000459642.1:n.670G>C
ENST00000616242.4:c.1287G>C	ENSP00000482149.1:p.Leu429=
NM_000162.3:c.1290G>C	NP_000153.1:p.Leu430=
NM_033507.1:c.1293G>C	NP_277042.1:p.Leu431=
NM_033508.1:c.1287G>C	NP_277043.1:p.Leu429=
NM_000162.4:c.1290G>C	NP_000153.1:p.Leu430=
NM_001354800.1:c.1290G>C	NP_001341729.1:p.Leu430=
NM_001354801.1:c.279G>C	NP_001341730.1:p.Leu93=
NM_001354802.1:c.150G>C	NP_001341731.1:p.Leu50=
NM_001354803.1:c.324G>C	NP_001341732.1:p.Leu108=
NM_033507.2:c.1293G>C	NP_277042.1:p.Leu431=
NM_033508.2:c.1287G>C	NP_277043.1:p.Leu429=
XM_024446707.1:c.150G>C	XP_024302475.1:p.Leu50=
NM_000162.5:c.1290G>C MANE Select	NP_000153.1:p.Leu430=
NM_033507.3:c.1293G>C	NP_277042.1:p.Leu431=
NM_033508.3:c.1287G>C	NP_277043.1:p.Leu429=
NM_001354803.2:c.324G>C	NP_001341732.1:p.Leu108=