Canonical Allele Identifier: CA367398469

Gene: GCK

Linked Data

• MyVariant Identifiers: chr7:g.44185150T>G (hg19) ; chr7:g.44145551T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44145551T>G , CM000669.2:g.44145551T>G	GRCh38
NC_000007.13:g.44185150T>G , CM000669.1:g.44185150T>G	GRCh37
NC_000007.12:g.44151675T>G	NCBI36
NG_008847.1:g.48873A>C
NG_008847.2:g.57620A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395796.8:c.*1197A>C	ENSP00000379142.4:n.*1197A>C
ENST00000616242.5:c.*319A>C	ENSP00000482149.2:n.*319A>C
ENST00000683378.1:n.425A>C
ENST00000336642.9:c.233A>C	ENSP00000338009.5:p.Asp78Ala
ENST00000345378.7:c.1202A>C	ENSP00000223366.2:p.Asp401Ala
ENST00000403799.8:c.1199A>C MANE Select	ENSP00000384247.3:p.Asp400Ala
ENST00000671824.1:c.1262A>C	ENSP00000500264.1:p.Asp421Ala
ENST00000672743.1:n.211A>C
ENST00000673284.1:c.1199A>C	ENSP00000499852.1:p.Asp400Ala
ENST00000336642.8:c.251A>C	ENSP00000338009.4:p.Asp84Ala
ENST00000345378.6:c.1202A>C	ENSP00000223366.2:p.Asp401Ala
ENST00000395796.7:c.1196A>C	ENSP00000379142.3:p.Asp399Ala
ENST00000403799.7:c.1199A>C	ENSP00000384247.3:p.Asp400Ala
ENST00000437084.1:c.1148A>C	ENSP00000402840.1:p.Asp383Ala
ENST00000459642.1:n.579A>C
ENST00000616242.4:c.1196A>C	ENSP00000482149.1:p.Asp399Ala
NM_000162.3:c.1199A>C	NP_000153.1:p.Asp400Ala
NM_033507.1:c.1202A>C	NP_277042.1:p.Asp401Ala
NM_033508.1:c.1196A>C	NP_277043.1:p.Asp399Ala
NM_000162.4:c.1199A>C	NP_000153.1:p.Asp400Ala
NM_001354800.1:c.1199A>C	NP_001341729.1:p.Asp400Ala
NM_001354801.1:c.188A>C	NP_001341730.1:p.Asp63Ala
NM_001354802.1:c.59A>C	NP_001341731.1:p.Asp20Ala
NM_001354803.1:c.233A>C	NP_001341732.1:p.Asp78Ala
NM_033507.2:c.1202A>C	NP_277042.1:p.Asp401Ala
NM_033508.2:c.1196A>C	NP_277043.1:p.Asp399Ala
XM_024446707.1:c.59A>C	XP_024302475.1:p.Asp20Ala
NM_000162.5:c.1199A>C MANE Select	NP_000153.1:p.Asp400Ala
NM_033507.3:c.1202A>C	NP_277042.1:p.Asp401Ala
NM_033508.3:c.1196A>C	NP_277043.1:p.Asp399Ala
NM_001354803.2:c.233A>C	NP_001341732.1:p.Asp78Ala