Canonical Allele Identifier: CA367396746

Gene: GCK

Linked Data

• MyVariant Identifiers: chr7:g.44184745A>C (hg19) ; chr7:g.44145146A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44145146A>C , CM000669.2:g.44145146A>C	GRCh38
NC_000007.13:g.44184745A>C , CM000669.1:g.44184745A>C	GRCh37
NC_000007.12:g.44151270A>C	NCBI36
NG_008847.1:g.49278T>G
NG_008847.2:g.58025T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395796.8:c.*1386T>G	ENSP00000379142.4:n.*1386T>G
ENST00000616242.5:c.*508T>G	ENSP00000482149.2:n.*508T>G
ENST00000683378.1:n.614T>G
ENST00000336642.9:c.422T>G	ENSP00000338009.5:p.Leu141Arg
ENST00000345378.7:c.1391T>G	ENSP00000223366.2:p.Leu464Arg
ENST00000403799.8:c.1388T>G MANE Select	ENSP00000384247.3:p.Leu463Arg
ENST00000671824.1:c.1451T>G	ENSP00000500264.1:p.Leu484Arg
ENST00000672743.1:n.381+19T>G
ENST00000673284.1:c.1369+19T>G	ENSP00000499852.1:n.1369+19T>G
ENST00000336642.8:c.440T>G	ENSP00000338009.4:p.Leu147Arg
ENST00000345378.6:c.1391T>G	ENSP00000223366.2:p.Leu464Arg
ENST00000395796.7:c.1385T>G	ENSP00000379142.3:p.Leu462Arg
ENST00000403799.7:c.1388T>G	ENSP00000384247.3:p.Leu463Arg
ENST00000437084.1:c.1337T>G	ENSP00000402840.1:p.Leu446Arg
ENST00000459642.1:n.768T>G
ENST00000616242.4:c.1385T>G	ENSP00000482149.1:p.Leu462Arg
NM_000162.3:c.1388T>G	NP_000153.1:p.Leu463Arg
NM_033507.1:c.1391T>G	NP_277042.1:p.Leu464Arg
NM_033508.1:c.1385T>G	NP_277043.1:p.Leu462Arg
NM_000162.4:c.1388T>G	NP_000153.1:p.Leu463Arg
NM_001354800.1:c.1369+19T>G	NP_001341729.1:n.1369+19T>G
NM_001354801.1:c.377T>G	NP_001341730.1:p.Leu126Arg
NM_001354802.1:c.229+19T>G	NP_001341731.1:n.229+19T>G
NM_001354803.1:c.422T>G	NP_001341732.1:p.Leu141Arg
NM_033507.2:c.1391T>G	NP_277042.1:p.Leu464Arg
NM_033508.2:c.1385T>G	NP_277043.1:p.Leu462Arg
XM_024446707.1:c.248T>G	XP_024302475.1:p.Leu83Arg
NM_000162.5:c.1388T>G MANE Select	NP_000153.1:p.Leu463Arg
NM_033507.3:c.1391T>G	NP_277042.1:p.Leu464Arg
NM_033508.3:c.1385T>G	NP_277043.1:p.Leu462Arg
NM_001354803.2:c.422T>G	NP_001341732.1:p.Leu141Arg