Canonical Allele Identifier: CA367397166

Gene: GCK

Linked Data

• MyVariant Identifiers: chr7:g.44184844A>C (hg19) ; chr7:g.44145245A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44145245A>C , CM000669.2:g.44145245A>C	GRCh38
NC_000007.13:g.44184844A>C , CM000669.1:g.44184844A>C	GRCh37
NC_000007.12:g.44151369A>C	NCBI36
NG_008847.1:g.49179T>G
NG_008847.2:g.57926T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395796.8:c.*1287T>G	ENSP00000379142.4:n.*1287T>G
ENST00000616242.5:c.*409T>G	ENSP00000482149.2:n.*409T>G
ENST00000683378.1:n.515T>G
ENST00000336642.9:c.323T>G	ENSP00000338009.5:p.Leu108Arg
ENST00000345378.7:c.1292T>G	ENSP00000223366.2:p.Leu431Arg
ENST00000403799.8:c.1289T>G MANE Select	ENSP00000384247.3:p.Leu430Arg
ENST00000671824.1:c.1352T>G	ENSP00000500264.1:p.Leu451Arg
ENST00000672743.1:n.301T>G
ENST00000673284.1:c.1289T>G	ENSP00000499852.1:p.Leu430Arg
ENST00000336642.8:c.341T>G	ENSP00000338009.4:p.Leu114Arg
ENST00000345378.6:c.1292T>G	ENSP00000223366.2:p.Leu431Arg
ENST00000395796.7:c.1286T>G	ENSP00000379142.3:p.Leu429Arg
ENST00000403799.7:c.1289T>G	ENSP00000384247.3:p.Leu430Arg
ENST00000437084.1:c.1238T>G	ENSP00000402840.1:p.Leu413Arg
ENST00000459642.1:n.669T>G
ENST00000616242.4:c.1286T>G	ENSP00000482149.1:p.Leu429Arg
NM_000162.3:c.1289T>G	NP_000153.1:p.Leu430Arg
NM_033507.1:c.1292T>G	NP_277042.1:p.Leu431Arg
NM_033508.1:c.1286T>G	NP_277043.1:p.Leu429Arg
NM_000162.4:c.1289T>G	NP_000153.1:p.Leu430Arg
NM_001354800.1:c.1289T>G	NP_001341729.1:p.Leu430Arg
NM_001354801.1:c.278T>G	NP_001341730.1:p.Leu93Arg
NM_001354802.1:c.149T>G	NP_001341731.1:p.Leu50Arg
NM_001354803.1:c.323T>G	NP_001341732.1:p.Leu108Arg
NM_033507.2:c.1292T>G	NP_277042.1:p.Leu431Arg
NM_033508.2:c.1286T>G	NP_277043.1:p.Leu429Arg
XM_024446707.1:c.149T>G	XP_024302475.1:p.Leu50Arg
NM_000162.5:c.1289T>G MANE Select	NP_000153.1:p.Leu430Arg
NM_033507.3:c.1292T>G	NP_277042.1:p.Leu431Arg
NM_033508.3:c.1286T>G	NP_277043.1:p.Leu429Arg
NM_001354803.2:c.323T>G	NP_001341732.1:p.Leu108Arg