Canonical Allele Identifier: CA367396774

Gene: GCK

Linked Data

• MyVariant Identifiers: chr7:g.44184751C>G (hg19) ; chr7:g.44145152C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44145152C>G , CM000669.2:g.44145152C>G	GRCh38
NC_000007.13:g.44184751C>G , CM000669.1:g.44184751C>G	GRCh37
NC_000007.12:g.44151276C>G	NCBI36
NG_008847.1:g.49272G>C
NG_008847.2:g.58019G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395796.8:c.*1380G>C	ENSP00000379142.4:n.*1380G>C
ENST00000616242.5:c.*502G>C	ENSP00000482149.2:n.*502G>C
ENST00000683378.1:n.608G>C
ENST00000336642.9:c.416G>C	ENSP00000338009.5:p.Cys139Ser
ENST00000345378.7:c.1385G>C	ENSP00000223366.2:p.Cys462Ser
ENST00000403799.8:c.1382G>C MANE Select	ENSP00000384247.3:p.Cys461Ser
ENST00000671824.1:c.1445G>C	ENSP00000500264.1:p.Cys482Ser
ENST00000672743.1:n.381+13G>C
ENST00000673284.1:c.1369+13G>C	ENSP00000499852.1:n.1369+13G>C
ENST00000336642.8:c.434G>C	ENSP00000338009.4:p.Cys145Ser
ENST00000345378.6:c.1385G>C	ENSP00000223366.2:p.Cys462Ser
ENST00000395796.7:c.1379G>C	ENSP00000379142.3:p.Cys460Ser
ENST00000403799.7:c.1382G>C	ENSP00000384247.3:p.Cys461Ser
ENST00000437084.1:c.1331G>C	ENSP00000402840.1:p.Cys444Ser
ENST00000459642.1:n.762G>C
ENST00000616242.4:c.1379G>C	ENSP00000482149.1:p.Cys460Ser
NM_000162.3:c.1382G>C	NP_000153.1:p.Cys461Ser
NM_033507.1:c.1385G>C	NP_277042.1:p.Cys462Ser
NM_033508.1:c.1379G>C	NP_277043.1:p.Cys460Ser
NM_000162.4:c.1382G>C	NP_000153.1:p.Cys461Ser
NM_001354800.1:c.1369+13G>C	NP_001341729.1:n.1369+13G>C
NM_001354801.1:c.371G>C	NP_001341730.1:p.Cys124Ser
NM_001354802.1:c.229+13G>C	NP_001341731.1:n.229+13G>C
NM_001354803.1:c.416G>C	NP_001341732.1:p.Cys139Ser
NM_033507.2:c.1385G>C	NP_277042.1:p.Cys462Ser
NM_033508.2:c.1379G>C	NP_277043.1:p.Cys460Ser
XM_024446707.1:c.242G>C	XP_024302475.1:p.Cys81Ser
NM_000162.5:c.1382G>C MANE Select	NP_000153.1:p.Cys461Ser
NM_033507.3:c.1385G>C	NP_277042.1:p.Cys462Ser
NM_033508.3:c.1379G>C	NP_277043.1:p.Cys460Ser
NM_001354803.2:c.416G>C	NP_001341732.1:p.Cys139Ser