Canonical Allele Identifier: CA367396895

Gene: GCK

Linked Data

• MyVariant Identifiers: chr7:g.44184781A>T (hg19) ; chr7:g.44145182A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44145182A>T , CM000669.2:g.44145182A>T	GRCh38
NC_000007.13:g.44184781A>T , CM000669.1:g.44184781A>T	GRCh37
NC_000007.12:g.44151306A>T	NCBI36
NG_008847.1:g.49242T>A
NG_008847.2:g.57989T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395796.8:c.*1350T>A	ENSP00000379142.4:n.*1350T>A
ENST00000616242.5:c.*472T>A	ENSP00000482149.2:n.*472T>A
ENST00000683378.1:n.578T>A
ENST00000336642.9:c.386T>A	ENSP00000338009.5:p.Leu129Gln
ENST00000345378.7:c.1355T>A	ENSP00000223366.2:p.Leu452Gln
ENST00000403799.8:c.1352T>A MANE Select	ENSP00000384247.3:p.Leu451Gln
ENST00000671824.1:c.1415T>A	ENSP00000500264.1:p.Leu472Gln
ENST00000672743.1:n.364T>A
ENST00000673284.1:c.1352T>A	ENSP00000499852.1:p.Leu451Gln
ENST00000336642.8:c.404T>A	ENSP00000338009.4:p.Leu135Gln
ENST00000345378.6:c.1355T>A	ENSP00000223366.2:p.Leu452Gln
ENST00000395796.7:c.1349T>A	ENSP00000379142.3:p.Leu450Gln
ENST00000403799.7:c.1352T>A	ENSP00000384247.3:p.Leu451Gln
ENST00000437084.1:c.1301T>A	ENSP00000402840.1:p.Leu434Gln
ENST00000459642.1:n.732T>A
ENST00000616242.4:c.1349T>A	ENSP00000482149.1:p.Leu450Gln
NM_000162.3:c.1352T>A	NP_000153.1:p.Leu451Gln
NM_033507.1:c.1355T>A	NP_277042.1:p.Leu452Gln
NM_033508.1:c.1349T>A	NP_277043.1:p.Leu450Gln
NM_000162.4:c.1352T>A	NP_000153.1:p.Leu451Gln
NM_001354800.1:c.1352T>A	NP_001341729.1:p.Leu451Gln
NM_001354801.1:c.341T>A	NP_001341730.1:p.Leu114Gln
NM_001354802.1:c.212T>A	NP_001341731.1:p.Leu71Gln
NM_001354803.1:c.386T>A	NP_001341732.1:p.Leu129Gln
NM_033507.2:c.1355T>A	NP_277042.1:p.Leu452Gln
NM_033508.2:c.1349T>A	NP_277043.1:p.Leu450Gln
XM_024446707.1:c.212T>A	XP_024302475.1:p.Leu71Gln
NM_000162.5:c.1352T>A MANE Select	NP_000153.1:p.Leu451Gln
NM_033507.3:c.1355T>A	NP_277042.1:p.Leu452Gln
NM_033508.3:c.1349T>A	NP_277043.1:p.Leu450Gln
NM_001354803.2:c.386T>A	NP_001341732.1:p.Leu129Gln