Canonical Allele Identifier: CA454606335

Gene: GCK

Linked Data

• MyVariant Identifiers: chr7:g.44184753G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44145154G>C , CM000669.2:g.44145154G>C	GRCh38
NC_000007.13:g.44184753G>C , CM000669.1:g.44184753G>C	GRCh37
NC_000007.12:g.44151278G>C	NCBI36
NG_008847.1:g.49270C>G
NG_008847.2:g.58017C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395796.8:c.*1378C>G	ENSP00000379142.4:n.*1378C>G
ENST00000616242.5:c.*500C>G	ENSP00000482149.2:n.*500C>G
ENST00000683378.1:n.606C>G
ENST00000336642.9:c.414C>G	ENSP00000338009.5:p.Ala138=
ENST00000345378.7:c.1383C>G	ENSP00000223366.2:p.Ala461=
ENST00000403799.8:c.1380C>G MANE Select	ENSP00000384247.3:p.Ala460=
ENST00000671824.1:c.1443C>G	ENSP00000500264.1:p.Ala481=
ENST00000672743.1:n.381+11C>G
ENST00000673284.1:c.1369+11C>G	ENSP00000499852.1:n.1369+11C>G
ENST00000336642.8:c.432C>G	ENSP00000338009.4:p.Ala144=
ENST00000345378.6:c.1383C>G	ENSP00000223366.2:p.Ala461=
ENST00000395796.7:c.1377C>G	ENSP00000379142.3:p.Ala459=
ENST00000403799.7:c.1380C>G	ENSP00000384247.3:p.Ala460=
ENST00000437084.1:c.1329C>G	ENSP00000402840.1:p.Ala443=
ENST00000459642.1:n.760C>G
ENST00000616242.4:c.1377C>G	ENSP00000482149.1:p.Ala459=
NM_000162.3:c.1380C>G	NP_000153.1:p.Ala460=
NM_033507.1:c.1383C>G	NP_277042.1:p.Ala461=
NM_033508.1:c.1377C>G	NP_277043.1:p.Ala459=
NM_000162.4:c.1380C>G	NP_000153.1:p.Ala460=
NM_001354800.1:c.1369+11C>G	NP_001341729.1:n.1369+11C>G
NM_001354801.1:c.369C>G	NP_001341730.1:p.Ala123=
NM_001354802.1:c.229+11C>G	NP_001341731.1:n.229+11C>G
NM_001354803.1:c.414C>G	NP_001341732.1:p.Ala138=
NM_033507.2:c.1383C>G	NP_277042.1:p.Ala461=
NM_033508.2:c.1377C>G	NP_277043.1:p.Ala459=
XM_024446707.1:c.240C>G	XP_024302475.1:p.Ala80=
NM_000162.5:c.1380C>G MANE Select	NP_000153.1:p.Ala460=
NM_033507.3:c.1383C>G	NP_277042.1:p.Ala461=
NM_033508.3:c.1377C>G	NP_277043.1:p.Ala459=
NM_001354803.2:c.414C>G	NP_001341732.1:p.Ala138=