Canonical Allele Identifier: CA367399774

Gene: GCK

Linked Data

• MyVariant Identifiers: chr7:g.44186088C>G (hg19) ; chr7:g.44146489C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44146489C>G , CM000669.2:g.44146489C>G	GRCh38
NC_000007.13:g.44186088C>G , CM000669.1:g.44186088C>G	GRCh37
NC_000007.12:g.44152613C>G	NCBI36
NG_008847.1:g.47935G>C
NG_008847.2:g.56682G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395796.8:c.*991G>C	ENSP00000379142.4:n.*991G>C
ENST00000616242.5:c.*113G>C	ENSP00000482149.2:n.*113G>C
ENST00000683378.1:n.219G>C
ENST00000345378.7:c.996G>C	ENSP00000223366.2:p.Glu332Asp
ENST00000403799.8:c.993G>C MANE Select	ENSP00000384247.3:p.Glu331Asp
ENST00000671824.1:c.1056G>C	ENSP00000500264.1:p.Glu352Asp
ENST00000673284.1:c.993G>C	ENSP00000499852.1:p.Glu331Asp
ENST00000345378.6:c.996G>C	ENSP00000223366.2:p.Glu332Asp
ENST00000395796.7:c.990G>C	ENSP00000379142.3:p.Glu330Asp
ENST00000403799.7:c.993G>C	ENSP00000384247.3:p.Glu331Asp
ENST00000437084.1:c.942G>C	ENSP00000402840.1:p.Glu314Asp
ENST00000473353.1:n.291G>C
ENST00000616242.4:c.990G>C	ENSP00000482149.1:p.Glu330Asp
NM_000162.3:c.993G>C	NP_000153.1:p.Glu331Asp
NM_033507.1:c.996G>C	NP_277042.1:p.Glu332Asp
NM_033508.1:c.990G>C	NP_277043.1:p.Glu330Asp
NM_000162.4:c.993G>C	NP_000153.1:p.Glu331Asp
NM_001354800.1:c.993G>C	NP_001341729.1:p.Glu331Asp
NM_001354801.1:c.8+130G>C	NP_001341730.1:n.8+130G>C
NM_033507.2:c.996G>C	NP_277042.1:p.Glu332Asp
NM_033508.2:c.990G>C	NP_277043.1:p.Glu330Asp
NM_000162.5:c.993G>C MANE Select	NP_000153.1:p.Glu331Asp
NM_033507.3:c.996G>C	NP_277042.1:p.Glu332Asp
NM_033508.3:c.990G>C	NP_277043.1:p.Glu330Asp