Canonical Allele Identifier: CA501217

Gene: GCK

Linked Data

• MyVariant Identifiers: chr7:g.44184829T>C (hg19) ; chr7:g.44145230T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44145230T>C , CM000669.2:g.44145230T>C	GRCh38
NC_000007.13:g.44184829T>C , CM000669.1:g.44184829T>C	GRCh37
NC_000007.12:g.44151354T>C	NCBI36
NG_008847.1:g.49194A>G
NG_008847.2:g.57941A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395796.8:c.*1302A>G	ENSP00000379142.4:n.*1302A>G
ENST00000616242.5:c.*424A>G	ENSP00000482149.2:n.*424A>G
ENST00000683378.1:n.530A>G
ENST00000336642.9:c.338A>G	ENSP00000338009.5:p.Glu113Gly
ENST00000345378.7:c.1307A>G	ENSP00000223366.2:p.Glu436Gly
ENST00000403799.8:c.1304A>G MANE Select	ENSP00000384247.3:p.Glu435Gly
ENST00000671824.1:c.1367A>G	ENSP00000500264.1:p.Glu456Gly
ENST00000672743.1:n.316A>G
ENST00000673284.1:c.1304A>G	ENSP00000499852.1:p.Glu435Gly
ENST00000336642.8:c.356A>G	ENSP00000338009.4:p.Glu119Gly
ENST00000345378.6:c.1307A>G	ENSP00000223366.2:p.Glu436Gly
ENST00000395796.7:c.1301A>G	ENSP00000379142.3:p.Glu434Gly
ENST00000403799.7:c.1304A>G	ENSP00000384247.3:p.Glu435Gly
ENST00000437084.1:c.1253A>G	ENSP00000402840.1:p.Glu418Gly
ENST00000459642.1:n.684A>G
ENST00000616242.4:c.1301A>G	ENSP00000482149.1:p.Glu434Gly
NM_000162.3:c.1304A>G	NP_000153.1:p.Glu435Gly
NM_033507.1:c.1307A>G	NP_277042.1:p.Glu436Gly
NM_033508.1:c.1301A>G	NP_277043.1:p.Glu434Gly
NM_000162.4:c.1304A>G	NP_000153.1:p.Glu435Gly
NM_001354800.1:c.1304A>G	NP_001341729.1:p.Glu435Gly
NM_001354801.1:c.293A>G	NP_001341730.1:p.Glu98Gly
NM_001354802.1:c.164A>G	NP_001341731.1:p.Glu55Gly
NM_001354803.1:c.338A>G	NP_001341732.1:p.Glu113Gly
NM_033507.2:c.1307A>G	NP_277042.1:p.Glu436Gly
NM_033508.2:c.1301A>G	NP_277043.1:p.Glu434Gly
XM_024446707.1:c.164A>G	XP_024302475.1:p.Glu55Gly
NM_000162.5:c.1304A>G MANE Select	NP_000153.1:p.Glu435Gly
NM_033507.3:c.1307A>G	NP_277042.1:p.Glu436Gly
NM_033508.3:c.1301A>G	NP_277043.1:p.Glu434Gly
NM_001354803.2:c.338A>G	NP_001341732.1:p.Glu113Gly