Canonical Allele Identifier: CA367396822

Gene: GCK

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000395796.8:c.*1371A>T	ENSP00000379142.4:n.*1371A>T
ENST00000616242.5:c.*493A>T	ENSP00000482149.2:n.*493A>T
ENST00000683378.1:n.599A>T
ENST00000336642.9:c.407A>T	ENSP00000338009.5:p.Lys136Met
ENST00000345378.7:c.1376A>T	ENSP00000223366.2:p.Lys459Met
ENST00000403799.8:c.1373A>T MANE Select	ENSP00000384247.3:p.Lys458Met
ENST00000671824.1:c.1436A>T	ENSP00000500264.1:p.Lys479Met
ENST00000672743.1:n.381+4A>T
ENST00000673284.1:c.1369+4A>T	ENSP00000499852.1:n.1369+4A>T
ENST00000336642.8:c.425A>T	ENSP00000338009.4:p.Lys142Met
ENST00000345378.6:c.1376A>T	ENSP00000223366.2:p.Lys459Met
ENST00000395796.7:c.1370A>T	ENSP00000379142.3:p.Lys457Met
ENST00000403799.7:c.1373A>T	ENSP00000384247.3:p.Lys458Met
ENST00000437084.1:c.1322A>T	ENSP00000402840.1:p.Lys441Met
ENST00000459642.1:n.753A>T
ENST00000616242.4:c.1370A>T	ENSP00000482149.1:p.Lys457Met
NM_000162.3:c.1373A>T	NP_000153.1:p.Lys458Met
NM_033507.1:c.1376A>T	NP_277042.1:p.Lys459Met
NM_033508.1:c.1370A>T	NP_277043.1:p.Lys457Met
NM_000162.4:c.1373A>T	NP_000153.1:p.Lys458Met
NM_001354800.1:c.1369+4A>T	NP_001341729.1:n.1369+4A>T
NM_001354801.1:c.362A>T	NP_001341730.1:p.Lys121Met
NM_001354802.1:c.229+4A>T	NP_001341731.1:n.229+4A>T
NM_001354803.1:c.407A>T	NP_001341732.1:p.Lys136Met
NM_033507.2:c.1376A>T	NP_277042.1:p.Lys459Met
NM_033508.2:c.1370A>T	NP_277043.1:p.Lys457Met
XM_024446707.1:c.233A>T	XP_024302475.1:p.Lys78Met
NM_000162.5:c.1373A>T MANE Select	NP_000153.1:p.Lys458Met
NM_033507.3:c.1376A>T	NP_277042.1:p.Lys459Met
NM_033508.3:c.1370A>T	NP_277043.1:p.Lys457Met
NM_001354803.2:c.407A>T	NP_001341732.1:p.Lys136Met