Canonical Allele Identifier: CA367396820

Gene: GCK

Linked Data

• MyVariant Identifiers: chr7:g.44184760T>G (hg19) ; chr7:g.44145161T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44145161T>G , CM000669.2:g.44145161T>G	GRCh38
NC_000007.13:g.44184760T>G , CM000669.1:g.44184760T>G	GRCh37
NC_000007.12:g.44151285T>G	NCBI36
NG_008847.1:g.49263A>C
NG_008847.2:g.58010A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000395796.8:c.*1371A>C	ENSP00000379142.4:n.*1371A>C
ENST00000616242.5:c.*493A>C	ENSP00000482149.2:n.*493A>C
ENST00000683378.1:n.599A>C
ENST00000336642.9:c.407A>C	ENSP00000338009.5:p.Lys136Thr
ENST00000345378.7:c.1376A>C	ENSP00000223366.2:p.Lys459Thr
ENST00000403799.8:c.1373A>C MANE Select	ENSP00000384247.3:p.Lys458Thr
ENST00000671824.1:c.1436A>C	ENSP00000500264.1:p.Lys479Thr
ENST00000672743.1:n.381+4A>C
ENST00000673284.1:c.1369+4A>C	ENSP00000499852.1:n.1369+4A>C
ENST00000336642.8:c.425A>C	ENSP00000338009.4:p.Lys142Thr
ENST00000345378.6:c.1376A>C	ENSP00000223366.2:p.Lys459Thr
ENST00000395796.7:c.1370A>C	ENSP00000379142.3:p.Lys457Thr
ENST00000403799.7:c.1373A>C	ENSP00000384247.3:p.Lys458Thr
ENST00000437084.1:c.1322A>C	ENSP00000402840.1:p.Lys441Thr
ENST00000459642.1:n.753A>C
ENST00000616242.4:c.1370A>C	ENSP00000482149.1:p.Lys457Thr
NM_000162.3:c.1373A>C	NP_000153.1:p.Lys458Thr
NM_033507.1:c.1376A>C	NP_277042.1:p.Lys459Thr
NM_033508.1:c.1370A>C	NP_277043.1:p.Lys457Thr
NM_000162.4:c.1373A>C	NP_000153.1:p.Lys458Thr
NM_001354800.1:c.1369+4A>C	NP_001341729.1:n.1369+4A>C
NM_001354801.1:c.362A>C	NP_001341730.1:p.Lys121Thr
NM_001354802.1:c.229+4A>C	NP_001341731.1:n.229+4A>C
NM_001354803.1:c.407A>C	NP_001341732.1:p.Lys136Thr
NM_033507.2:c.1376A>C	NP_277042.1:p.Lys459Thr
NM_033508.2:c.1370A>C	NP_277043.1:p.Lys457Thr
XM_024446707.1:c.233A>C	XP_024302475.1:p.Lys78Thr
NM_000162.5:c.1373A>C MANE Select	NP_000153.1:p.Lys458Thr
NM_033507.3:c.1376A>C	NP_277042.1:p.Lys459Thr
NM_033508.3:c.1370A>C	NP_277043.1:p.Lys457Thr
NM_001354803.2:c.407A>C	NP_001341732.1:p.Lys136Thr