Canonical Allele Identifier: CA367400412

Gene: GCK

Linked Data

• MyVariant Identifiers: chr7:g.44187255T>A (hg19) ; chr7:g.44147656T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44147656T>A , CM000669.2:g.44147656T>A	GRCh38
NC_000007.13:g.44187255T>A , CM000669.1:g.44187255T>A	GRCh37
NC_000007.12:g.44153780T>A	NCBI36
NG_008847.1:g.46768A>T
NG_008847.2:g.55515A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395796.8:c.*855A>T	ENSP00000379142.4:n.*855A>T
ENST00000616242.5:c.853+4A>T	ENSP00000482149.2:n.853+4A>T
ENST00000345378.7:c.860A>T	ENSP00000223366.2:p.Gln287Leu
ENST00000403799.8:c.857A>T MANE Select	ENSP00000384247.3:p.Gln286Leu
ENST00000671824.1:c.853+4A>T	ENSP00000500264.1:n.853+4A>T
ENST00000673284.1:c.857A>T	ENSP00000499852.1:p.Gln286Leu
ENST00000345378.6:c.860A>T	ENSP00000223366.2:p.Gln287Leu
ENST00000395796.7:c.854A>T	ENSP00000379142.3:p.Gln285Leu
ENST00000403799.7:c.857A>T	ENSP00000384247.3:p.Gln286Leu
ENST00000437084.1:c.806A>T	ENSP00000402840.1:p.Gln269Leu
ENST00000616242.4:c.854A>T	ENSP00000482149.1:p.Gln285Leu
NM_000162.3:c.857A>T	NP_000153.1:p.Gln286Leu
NM_033507.1:c.860A>T	NP_277042.1:p.Gln287Leu
NM_033508.1:c.854A>T	NP_277043.1:p.Gln285Leu
NM_000162.4:c.857A>T	NP_000153.1:p.Gln286Leu
NM_001354800.1:c.857A>T	NP_001341729.1:p.Gln286Leu
NM_033507.2:c.860A>T	NP_277042.1:p.Gln287Leu
NM_033508.2:c.854A>T	NP_277043.1:p.Gln285Leu
NM_000162.5:c.857A>T MANE Select	NP_000153.1:p.Gln286Leu
NM_033507.3:c.860A>T	NP_277042.1:p.Gln287Leu
NM_033508.3:c.854A>T	NP_277043.1:p.Gln285Leu