Canonical Allele Identifier: CA454606330

Gene: GCK

Linked Data

• MyVariant Identifiers: chr7:g.44184744C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44145145C>A , CM000669.2:g.44145145C>A	GRCh38
NC_000007.13:g.44184744C>A , CM000669.1:g.44184744C>A	GRCh37
NC_000007.12:g.44151269C>A	NCBI36
NG_008847.1:g.49279G>T
NG_008847.2:g.58026G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395796.8:c.*1387G>T	ENSP00000379142.4:n.*1387G>T
ENST00000616242.5:c.*509G>T	ENSP00000482149.2:n.*509G>T
ENST00000683378.1:n.615G>T
ENST00000336642.9:c.423G>T	ENSP00000338009.5:p.Leu141=
ENST00000345378.7:c.1392G>T	ENSP00000223366.2:p.Leu464=
ENST00000403799.8:c.1389G>T MANE Select	ENSP00000384247.3:p.Leu463=
ENST00000671824.1:c.1452G>T	ENSP00000500264.1:p.Leu484=
ENST00000672743.1:n.381+20G>T
ENST00000673284.1:c.1369+20G>T	ENSP00000499852.1:n.1369+20G>T
ENST00000336642.8:c.441G>T	ENSP00000338009.4:p.Leu147=
ENST00000345378.6:c.1392G>T	ENSP00000223366.2:p.Leu464=
ENST00000395796.7:c.1386G>T	ENSP00000379142.3:p.Leu462=
ENST00000403799.7:c.1389G>T	ENSP00000384247.3:p.Leu463=
ENST00000437084.1:c.1338G>T	ENSP00000402840.1:p.Leu446=
ENST00000459642.1:n.769G>T
ENST00000616242.4:c.1386G>T	ENSP00000482149.1:p.Leu462=
NM_000162.3:c.1389G>T	NP_000153.1:p.Leu463=
NM_033507.1:c.1392G>T	NP_277042.1:p.Leu464=
NM_033508.1:c.1386G>T	NP_277043.1:p.Leu462=
NM_000162.4:c.1389G>T	NP_000153.1:p.Leu463=
NM_001354800.1:c.1369+20G>T	NP_001341729.1:n.1369+20G>T
NM_001354801.1:c.378G>T	NP_001341730.1:p.Leu126=
NM_001354802.1:c.229+20G>T	NP_001341731.1:n.229+20G>T
NM_001354803.1:c.423G>T	NP_001341732.1:p.Leu141=
NM_033507.2:c.1392G>T	NP_277042.1:p.Leu464=
NM_033508.2:c.1386G>T	NP_277043.1:p.Leu462=
XM_024446707.1:c.249G>T	XP_024302475.1:p.Leu83=
NM_000162.5:c.1389G>T MANE Select	NP_000153.1:p.Leu463=
NM_033507.3:c.1392G>T	NP_277042.1:p.Leu464=
NM_033508.3:c.1386G>T	NP_277043.1:p.Leu462=
NM_001354803.2:c.423G>T	NP_001341732.1:p.Leu141=