Canonical Allele Identifier: CA367398581
Gene: GCK HGNC NCBI

Linked Data

ClinVar Variation Id: 2169517

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44145569C>G , CM000669.2:g.44145569C>G GRCh38
NC_000007.13:g.44185168C>G , CM000669.1:g.44185168C>G GRCh37
NC_000007.12:g.44151693C>G NCBI36
NG_008847.1:g.48855G>C
NG_008847.2:g.57602G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*1179G>C ENSP00000379142.4:n.*1179G>C
ENST00000616242.5:c.*301G>C ENSP00000482149.2:n.*301G>C
ENST00000683378.1:n.407G>C
ENST00000336642.9:c.215G>C ENSP00000338009.5:p.Arg72Pro
ENST00000345378.7:c.1184G>C ENSP00000223366.2:p.Arg395Pro
ENST00000403799.8:c.1181G>C MANE Select ENSP00000384247.3:p.Arg394Pro
ENST00000671824.1:c.1244G>C ENSP00000500264.1:p.Arg415Pro
ENST00000672743.1:n.193G>C
ENST00000673284.1:c.1181G>C ENSP00000499852.1:p.Arg394Pro
ENST00000336642.8:c.233G>C ENSP00000338009.4:p.Arg78Pro
ENST00000345378.6:c.1184G>C ENSP00000223366.2:p.Arg395Pro
ENST00000395796.7:c.1178G>C ENSP00000379142.3:p.Arg393Pro
ENST00000403799.7:c.1181G>C ENSP00000384247.3:p.Arg394Pro
ENST00000437084.1:c.1130G>C ENSP00000402840.1:p.Arg377Pro
ENST00000459642.1:n.561G>C
ENST00000616242.4:c.1178G>C ENSP00000482149.1:p.Arg393Pro
NM_000162.3:c.1181G>C NP_000153.1:p.Arg394Pro
NM_033507.1:c.1184G>C NP_277042.1:p.Arg395Pro
NM_033508.1:c.1178G>C NP_277043.1:p.Arg393Pro
NM_000162.4:c.1181G>C NP_000153.1:p.Arg394Pro
NM_001354800.1:c.1181G>C NP_001341729.1:p.Arg394Pro
NM_001354801.1:c.170G>C NP_001341730.1:p.Arg57Pro
NM_001354802.1:c.41G>C NP_001341731.1:p.Arg14Pro
NM_001354803.1:c.215G>C NP_001341732.1:p.Arg72Pro
NM_033507.2:c.1184G>C NP_277042.1:p.Arg395Pro
NM_033508.2:c.1178G>C NP_277043.1:p.Arg393Pro
XM_024446707.1:c.41G>C XP_024302475.1:p.Arg14Pro
NM_000162.5:c.1181G>C MANE Select NP_000153.1:p.Arg394Pro
NM_033507.3:c.1184G>C NP_277042.1:p.Arg395Pro
NM_033508.3:c.1178G>C NP_277043.1:p.Arg393Pro
NM_001354803.2:c.215G>C NP_001341732.1:p.Arg72Pro