Canonical Allele Identifier: CA367397173

Gene: GCK

Linked Data

• MyVariant Identifiers: chr7:g.44184845G>T (hg19) ; chr7:g.44145246G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44145246G>T , CM000669.2:g.44145246G>T	GRCh38
NC_000007.13:g.44184845G>T , CM000669.1:g.44184845G>T	GRCh37
NC_000007.12:g.44151370G>T	NCBI36
NG_008847.1:g.49178C>A
NG_008847.2:g.57925C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395796.8:c.*1286C>A	ENSP00000379142.4:n.*1286C>A
ENST00000616242.5:c.*408C>A	ENSP00000482149.2:n.*408C>A
ENST00000683378.1:n.514C>A
ENST00000336642.9:c.322C>A	ENSP00000338009.5:p.Leu108Met
ENST00000345378.7:c.1291C>A	ENSP00000223366.2:p.Leu431Met
ENST00000403799.8:c.1288C>A MANE Select	ENSP00000384247.3:p.Leu430Met
ENST00000671824.1:c.1351C>A	ENSP00000500264.1:p.Leu451Met
ENST00000672743.1:n.300C>A
ENST00000673284.1:c.1288C>A	ENSP00000499852.1:p.Leu430Met
ENST00000336642.8:c.340C>A	ENSP00000338009.4:p.Leu114Met
ENST00000345378.6:c.1291C>A	ENSP00000223366.2:p.Leu431Met
ENST00000395796.7:c.1285C>A	ENSP00000379142.3:p.Leu429Met
ENST00000403799.7:c.1288C>A	ENSP00000384247.3:p.Leu430Met
ENST00000437084.1:c.1237C>A	ENSP00000402840.1:p.Leu413Met
ENST00000459642.1:n.668C>A
ENST00000616242.4:c.1285C>A	ENSP00000482149.1:p.Leu429Met
NM_000162.3:c.1288C>A	NP_000153.1:p.Leu430Met
NM_033507.1:c.1291C>A	NP_277042.1:p.Leu431Met
NM_033508.1:c.1285C>A	NP_277043.1:p.Leu429Met
NM_000162.4:c.1288C>A	NP_000153.1:p.Leu430Met
NM_001354800.1:c.1288C>A	NP_001341729.1:p.Leu430Met
NM_001354801.1:c.277C>A	NP_001341730.1:p.Leu93Met
NM_001354802.1:c.148C>A	NP_001341731.1:p.Leu50Met
NM_001354803.1:c.322C>A	NP_001341732.1:p.Leu108Met
NM_033507.2:c.1291C>A	NP_277042.1:p.Leu431Met
NM_033508.2:c.1285C>A	NP_277043.1:p.Leu429Met
XM_024446707.1:c.148C>A	XP_024302475.1:p.Leu50Met
NM_000162.5:c.1288C>A MANE Select	NP_000153.1:p.Leu430Met
NM_033507.3:c.1291C>A	NP_277042.1:p.Leu431Met
NM_033508.3:c.1285C>A	NP_277043.1:p.Leu429Met
NM_001354803.2:c.322C>A	NP_001341732.1:p.Leu108Met