Canonical Allele Identifier: CA454606339

Gene: GCK

Linked Data

• MyVariant Identifiers: chr7:g.44184762A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44145163A>G , CM000669.2:g.44145163A>G	GRCh38
NC_000007.13:g.44184762A>G , CM000669.1:g.44184762A>G	GRCh37
NC_000007.12:g.44151287A>G	NCBI36
NG_008847.1:g.49261T>C
NG_008847.2:g.58008T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000395796.8:c.*1369T>C	ENSP00000379142.4:n.*1369T>C
ENST00000616242.5:c.*491T>C	ENSP00000482149.2:n.*491T>C
ENST00000683378.1:n.597T>C
ENST00000336642.9:c.405T>C	ENSP00000338009.5:p.Cys135=
ENST00000345378.7:c.1374T>C	ENSP00000223366.2:p.Cys458=
ENST00000403799.8:c.1371T>C MANE Select	ENSP00000384247.3:p.Cys457=
ENST00000671824.1:c.1434T>C	ENSP00000500264.1:p.Cys478=
ENST00000672743.1:n.381+2T>C
ENST00000673284.1:c.1369+2T>C	ENSP00000499852.1:n.1369+2T>C
ENST00000336642.8:c.423T>C	ENSP00000338009.4:p.Cys141=
ENST00000345378.6:c.1374T>C	ENSP00000223366.2:p.Cys458=
ENST00000395796.7:c.1368T>C	ENSP00000379142.3:p.Cys456=
ENST00000403799.7:c.1371T>C	ENSP00000384247.3:p.Cys457=
ENST00000437084.1:c.1320T>C	ENSP00000402840.1:p.Cys440=
ENST00000459642.1:n.751T>C
ENST00000616242.4:c.1368T>C	ENSP00000482149.1:p.Cys456=
NM_000162.3:c.1371T>C	NP_000153.1:p.Cys457=
NM_033507.1:c.1374T>C	NP_277042.1:p.Cys458=
NM_033508.1:c.1368T>C	NP_277043.1:p.Cys456=
NM_000162.4:c.1371T>C	NP_000153.1:p.Cys457=
NM_001354800.1:c.1369+2T>C	NP_001341729.1:n.1369+2T>C
NM_001354801.1:c.360T>C	NP_001341730.1:p.Cys120=
NM_001354802.1:c.229+2T>C	NP_001341731.1:n.229+2T>C
NM_001354803.1:c.405T>C	NP_001341732.1:p.Cys135=
NM_033507.2:c.1374T>C	NP_277042.1:p.Cys458=
NM_033508.2:c.1368T>C	NP_277043.1:p.Cys456=
XM_024446707.1:c.231T>C	XP_024302475.1:p.Cys77=
NM_000162.5:c.1371T>C MANE Select	NP_000153.1:p.Cys457=
NM_033507.3:c.1374T>C	NP_277042.1:p.Cys458=
NM_033508.3:c.1368T>C	NP_277043.1:p.Cys456=
NM_001354803.2:c.405T>C	NP_001341732.1:p.Cys135=