Canonical Allele Identifier: CA367399422

Gene: GCK

Linked Data

• MyVariant Identifiers: chr7:g.44185329G>C (hg19) ; chr7:g.44145730G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44145730G>C , CM000669.2:g.44145730G>C	GRCh38
NC_000007.13:g.44185329G>C , CM000669.1:g.44185329G>C	GRCh37
NC_000007.12:g.44151854G>C	NCBI36
NG_008847.1:g.48694C>G
NG_008847.2:g.57441C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395796.8:c.*1018C>G	ENSP00000379142.4:n.*1018C>G
ENST00000616242.5:c.*140C>G	ENSP00000482149.2:n.*140C>G
ENST00000683378.1:n.246C>G
ENST00000336642.9:c.54C>G	ENSP00000338009.5:p.Pro18=
ENST00000345378.7:c.1023C>G	ENSP00000223366.2:p.Ser341Arg
ENST00000403799.8:c.1020C>G MANE Select	ENSP00000384247.3:p.Ser340Arg
ENST00000671824.1:c.1083C>G	ENSP00000500264.1:p.Ser361Arg
ENST00000672743.1:n.32C>G
ENST00000673284.1:c.1020C>G	ENSP00000499852.1:p.Ser340Arg
ENST00000336642.8:c.72C>G	ENSP00000338009.4:p.Pro24=
ENST00000345378.6:c.1023C>G	ENSP00000223366.2:p.Ser341Arg
ENST00000395796.7:c.1017C>G	ENSP00000379142.3:p.Ser339Arg
ENST00000403799.7:c.1020C>G	ENSP00000384247.3:p.Ser340Arg
ENST00000437084.1:c.969C>G	ENSP00000402840.1:p.Ser323Arg
ENST00000459642.1:n.400C>G
ENST00000473353.1:n.318C>G
ENST00000616242.4:c.1017C>G	ENSP00000482149.1:p.Ser339Arg
NM_000162.3:c.1020C>G	NP_000153.1:p.Ser340Arg
NM_033507.1:c.1023C>G	NP_277042.1:p.Ser341Arg
NM_033508.1:c.1017C>G	NP_277043.1:p.Ser339Arg
NM_000162.4:c.1020C>G	NP_000153.1:p.Ser340Arg
NM_001354800.1:c.1020C>G	NP_001341729.1:p.Ser340Arg
NM_001354801.1:c.9C>G	NP_001341730.1:p.Ser3Arg
NM_001354802.1:c.-121C>G	NP_001341731.1:n.-121C>G
NM_001354803.1:c.54C>G	NP_001341732.1:p.Pro18=
NM_033507.2:c.1023C>G	NP_277042.1:p.Ser341Arg
NM_033508.2:c.1017C>G	NP_277043.1:p.Ser339Arg
XM_024446707.1:c.-121C>G	XP_024302475.1:n.-121C>G
NM_000162.5:c.1020C>G MANE Select	NP_000153.1:p.Ser340Arg
NM_033507.3:c.1023C>G	NP_277042.1:p.Ser341Arg
NM_033508.3:c.1017C>G	NP_277043.1:p.Ser339Arg
NM_001354803.2:c.54C>G	NP_001341732.1:p.Pro18=