Canonical Allele Identifier: CA213749
Gene: GCK HGNC NCBI

Linked Data

ClinVar Variation Id: 36194
dbSNP Id: rs193922277

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000395796.8:c.*1287T>C ENSP00000379142.4:n.*1287T>C
ENST00000616242.5:c.*409T>C ENSP00000482149.2:n.*409T>C
ENST00000683378.1:n.515T>C
ENST00000336642.9:c.323T>C ENSP00000338009.5:p.Leu108Pro
ENST00000345378.7:c.1292T>C ENSP00000223366.2:p.Leu431Pro
ENST00000403799.8:c.1289T>C MANE Select ENSP00000384247.3:p.Leu430Pro
ENST00000671824.1:c.1352T>C ENSP00000500264.1:p.Leu451Pro
ENST00000672743.1:n.301T>C
ENST00000673284.1:c.1289T>C ENSP00000499852.1:p.Leu430Pro
ENST00000336642.8:c.341T>C ENSP00000338009.4:p.Leu114Pro
ENST00000345378.6:c.1292T>C ENSP00000223366.2:p.Leu431Pro
ENST00000395796.7:c.1286T>C ENSP00000379142.3:p.Leu429Pro
ENST00000403799.7:c.1289T>C ENSP00000384247.3:p.Leu430Pro
ENST00000437084.1:c.1238T>C ENSP00000402840.1:p.Leu413Pro
ENST00000459642.1:n.669T>C
ENST00000616242.4:c.1286T>C ENSP00000482149.1:p.Leu429Pro
NM_000162.3:c.1289T>C NP_000153.1:p.Leu430Pro
NM_033507.1:c.1292T>C NP_277042.1:p.Leu431Pro
NM_033508.1:c.1286T>C NP_277043.1:p.Leu429Pro
NM_000162.4:c.1289T>C NP_000153.1:p.Leu430Pro
NM_001354800.1:c.1289T>C NP_001341729.1:p.Leu430Pro
NM_001354801.1:c.278T>C NP_001341730.1:p.Leu93Pro
NM_001354802.1:c.149T>C NP_001341731.1:p.Leu50Pro
NM_001354803.1:c.323T>C NP_001341732.1:p.Leu108Pro
NM_033507.2:c.1292T>C NP_277042.1:p.Leu431Pro
NM_033508.2:c.1286T>C NP_277043.1:p.Leu429Pro
XM_024446707.1:c.149T>C XP_024302475.1:p.Leu50Pro
NM_000162.5:c.1289T>C MANE Select NP_000153.1:p.Leu430Pro
NM_033507.3:c.1292T>C NP_277042.1:p.Leu431Pro
NM_033508.3:c.1286T>C NP_277043.1:p.Leu429Pro
NM_001354803.2:c.323T>C NP_001341732.1:p.Leu108Pro