Canonical Allele Identifier: CA367400508

Gene: GCK

Linked Data

• COSMIC: COSM5407525 ; COSM5407526 ; COSM5407527
• MyVariant Identifiers: chr7:g.44187301G>T (hg19) ; chr7:g.44147702G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44147702G>T , CM000669.2:g.44147702G>T	GRCh38
NC_000007.13:g.44187301G>T , CM000669.1:g.44187301G>T	GRCh37
NC_000007.12:g.44153826G>T	NCBI36
NG_008847.1:g.46722C>A
NG_008847.2:g.55469C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395796.8:c.*809C>A	ENSP00000379142.4:n.*809C>A
ENST00000616242.5:c.811C>A	ENSP00000482149.2:p.Leu271Met
ENST00000345378.7:c.814C>A	ENSP00000223366.2:p.Leu272Met
ENST00000403799.8:c.811C>A MANE Select	ENSP00000384247.3:p.Leu271Met
ENST00000671824.1:c.811C>A	ENSP00000500264.1:p.Leu271Met
ENST00000673284.1:c.811C>A	ENSP00000499852.1:p.Leu271Met
ENST00000345378.6:c.814C>A	ENSP00000223366.2:p.Leu272Met
ENST00000395796.7:c.808C>A	ENSP00000379142.3:p.Leu270Met
ENST00000403799.7:c.811C>A	ENSP00000384247.3:p.Leu271Met
ENST00000437084.1:c.760C>A	ENSP00000402840.1:p.Leu254Met
ENST00000616242.4:c.808C>A	ENSP00000482149.1:p.Leu270Met
NM_000162.3:c.811C>A	NP_000153.1:p.Leu271Met
NM_033507.1:c.814C>A	NP_277042.1:p.Leu272Met
NM_033508.1:c.808C>A	NP_277043.1:p.Leu270Met
XR_927223.1:n.36G>T
NM_000162.4:c.811C>A	NP_000153.1:p.Leu271Met
NM_001354800.1:c.811C>A	NP_001341729.1:p.Leu271Met
NM_033507.2:c.814C>A	NP_277042.1:p.Leu272Met
NM_033508.2:c.808C>A	NP_277043.1:p.Leu270Met
XR_927223.2:n.36G>T
NM_000162.5:c.811C>A MANE Select	NP_000153.1:p.Leu271Met
NM_033507.3:c.814C>A	NP_277042.1:p.Leu272Met
NM_033508.3:c.808C>A	NP_277043.1:p.Leu270Met