Canonical Allele Identifier: CA367399816

Gene: GCK

Linked Data

• MyVariant Identifiers: chr7:g.44186101C>A (hg19) ; chr7:g.44146502C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44146502C>A , CM000669.2:g.44146502C>A	GRCh38
NC_000007.13:g.44186101C>A , CM000669.1:g.44186101C>A	GRCh37
NC_000007.12:g.44152626C>A	NCBI36
NG_008847.1:g.47922G>T
NG_008847.2:g.56669G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395796.8:c.*978G>T	ENSP00000379142.4:n.*978G>T
ENST00000616242.5:c.*100G>T	ENSP00000482149.2:n.*100G>T
ENST00000683378.1:n.206G>T
ENST00000345378.7:c.983G>T	ENSP00000223366.2:p.Arg328Leu
ENST00000403799.8:c.980G>T MANE Select	ENSP00000384247.3:p.Arg327Leu
ENST00000671824.1:c.1043G>T	ENSP00000500264.1:p.Arg348Leu
ENST00000673284.1:c.980G>T	ENSP00000499852.1:p.Arg327Leu
ENST00000345378.6:c.983G>T	ENSP00000223366.2:p.Arg328Leu
ENST00000395796.7:c.977G>T	ENSP00000379142.3:p.Arg326Leu
ENST00000403799.7:c.980G>T	ENSP00000384247.3:p.Arg327Leu
ENST00000437084.1:c.929G>T	ENSP00000402840.1:p.Arg310Leu
ENST00000473353.1:n.278G>T
ENST00000616242.4:c.977G>T	ENSP00000482149.1:p.Arg326Leu
NM_000162.3:c.980G>T	NP_000153.1:p.Arg327Leu
NM_033507.1:c.983G>T	NP_277042.1:p.Arg328Leu
NM_033508.1:c.977G>T	NP_277043.1:p.Arg326Leu
NM_000162.4:c.980G>T	NP_000153.1:p.Arg327Leu
NM_001354800.1:c.980G>T	NP_001341729.1:p.Arg327Leu
NM_001354801.1:c.8+117G>T	NP_001341730.1:n.8+117G>T
NM_033507.2:c.983G>T	NP_277042.1:p.Arg328Leu
NM_033508.2:c.977G>T	NP_277043.1:p.Arg326Leu
NM_000162.5:c.980G>T MANE Select	NP_000153.1:p.Arg327Leu
NM_033507.3:c.983G>T	NP_277042.1:p.Arg328Leu
NM_033508.3:c.977G>T	NP_277043.1:p.Arg326Leu