Canonical Allele Identifier: CA367397123

Gene: GCK

Linked Data

• MyVariant Identifiers: chr7:g.44184833A>C (hg19) ; chr7:g.44145234A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44145234A>C , CM000669.2:g.44145234A>C	GRCh38
NC_000007.13:g.44184833A>C , CM000669.1:g.44184833A>C	GRCh37
NC_000007.12:g.44151358A>C	NCBI36
NG_008847.1:g.49190T>G
NG_008847.2:g.57937T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395796.8:c.*1298T>G	ENSP00000379142.4:n.*1298T>G
ENST00000616242.5:c.*420T>G	ENSP00000482149.2:n.*420T>G
ENST00000683378.1:n.526T>G
ENST00000336642.9:c.334T>G	ENSP00000338009.5:p.Cys112Gly
ENST00000345378.7:c.1303T>G	ENSP00000223366.2:p.Cys435Gly
ENST00000403799.8:c.1300T>G MANE Select	ENSP00000384247.3:p.Cys434Gly
ENST00000671824.1:c.1363T>G	ENSP00000500264.1:p.Cys455Gly
ENST00000672743.1:n.312T>G
ENST00000673284.1:c.1300T>G	ENSP00000499852.1:p.Cys434Gly
ENST00000336642.8:c.352T>G	ENSP00000338009.4:p.Cys118Gly
ENST00000345378.6:c.1303T>G	ENSP00000223366.2:p.Cys435Gly
ENST00000395796.7:c.1297T>G	ENSP00000379142.3:p.Cys433Gly
ENST00000403799.7:c.1300T>G	ENSP00000384247.3:p.Cys434Gly
ENST00000437084.1:c.1249T>G	ENSP00000402840.1:p.Cys417Gly
ENST00000459642.1:n.680T>G
ENST00000616242.4:c.1297T>G	ENSP00000482149.1:p.Cys433Gly
NM_000162.3:c.1300T>G	NP_000153.1:p.Cys434Gly
NM_033507.1:c.1303T>G	NP_277042.1:p.Cys435Gly
NM_033508.1:c.1297T>G	NP_277043.1:p.Cys433Gly
NM_000162.4:c.1300T>G	NP_000153.1:p.Cys434Gly
NM_001354800.1:c.1300T>G	NP_001341729.1:p.Cys434Gly
NM_001354801.1:c.289T>G	NP_001341730.1:p.Cys97Gly
NM_001354802.1:c.160T>G	NP_001341731.1:p.Cys54Gly
NM_001354803.1:c.334T>G	NP_001341732.1:p.Cys112Gly
NM_033507.2:c.1303T>G	NP_277042.1:p.Cys435Gly
NM_033508.2:c.1297T>G	NP_277043.1:p.Cys433Gly
XM_024446707.1:c.160T>G	XP_024302475.1:p.Cys54Gly
NM_000162.5:c.1300T>G MANE Select	NP_000153.1:p.Cys434Gly
NM_033507.3:c.1303T>G	NP_277042.1:p.Cys435Gly
NM_033508.3:c.1297T>G	NP_277043.1:p.Cys433Gly
NM_001354803.2:c.334T>G	NP_001341732.1:p.Cys112Gly