Canonical Allele Identifier: CA367396933

Gene: GCK

Linked Data

• MyVariant Identifiers: chr7:g.44184791C>A (hg19) ; chr7:g.44145192C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44145192C>A , CM000669.2:g.44145192C>A	GRCh38
NC_000007.13:g.44184791C>A , CM000669.1:g.44184791C>A	GRCh37
NC_000007.12:g.44151316C>A	NCBI36
NG_008847.1:g.49232G>T
NG_008847.2:g.57979G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395796.8:c.*1340G>T	ENSP00000379142.4:n.*1340G>T
ENST00000616242.5:c.*462G>T	ENSP00000482149.2:n.*462G>T
ENST00000683378.1:n.568G>T
ENST00000336642.9:c.376G>T	ENSP00000338009.5:p.Gly126Cys
ENST00000345378.7:c.1345G>T	ENSP00000223366.2:p.Gly449Cys
ENST00000403799.8:c.1342G>T MANE Select	ENSP00000384247.3:p.Gly448Cys
ENST00000671824.1:c.1405G>T	ENSP00000500264.1:p.Gly469Cys
ENST00000672743.1:n.354G>T
ENST00000673284.1:c.1342G>T	ENSP00000499852.1:p.Gly448Cys
ENST00000336642.8:c.394G>T	ENSP00000338009.4:p.Gly132Cys
ENST00000345378.6:c.1345G>T	ENSP00000223366.2:p.Gly449Cys
ENST00000395796.7:c.1339G>T	ENSP00000379142.3:p.Gly447Cys
ENST00000403799.7:c.1342G>T	ENSP00000384247.3:p.Gly448Cys
ENST00000437084.1:c.1291G>T	ENSP00000402840.1:p.Gly431Cys
ENST00000459642.1:n.722G>T
ENST00000616242.4:c.1339G>T	ENSP00000482149.1:p.Gly447Cys
NM_000162.3:c.1342G>T	NP_000153.1:p.Gly448Cys
NM_033507.1:c.1345G>T	NP_277042.1:p.Gly449Cys
NM_033508.1:c.1339G>T	NP_277043.1:p.Gly447Cys
NM_000162.4:c.1342G>T	NP_000153.1:p.Gly448Cys
NM_001354800.1:c.1342G>T	NP_001341729.1:p.Gly448Cys
NM_001354801.1:c.331G>T	NP_001341730.1:p.Gly111Cys
NM_001354802.1:c.202G>T	NP_001341731.1:p.Gly68Cys
NM_001354803.1:c.376G>T	NP_001341732.1:p.Gly126Cys
NM_033507.2:c.1345G>T	NP_277042.1:p.Gly449Cys
NM_033508.2:c.1339G>T	NP_277043.1:p.Gly447Cys
XM_024446707.1:c.202G>T	XP_024302475.1:p.Gly68Cys
NM_000162.5:c.1342G>T MANE Select	NP_000153.1:p.Gly448Cys
NM_033507.3:c.1345G>T	NP_277042.1:p.Gly449Cys
NM_033508.3:c.1339G>T	NP_277043.1:p.Gly447Cys
NM_001354803.2:c.376G>T	NP_001341732.1:p.Gly126Cys