Canonical Allele Identifier: CA367398933

Gene: GCK

Linked Data

• MyVariant Identifiers: chr7:g.44185237C>G (hg19) ; chr7:g.44145638C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44145638C>G , CM000669.2:g.44145638C>G	GRCh38
NC_000007.13:g.44185237C>G , CM000669.1:g.44185237C>G	GRCh37
NC_000007.12:g.44151762C>G	NCBI36
NG_008847.1:g.48786G>C
NG_008847.2:g.57533G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000395796.8:c.*1110G>C	ENSP00000379142.4:n.*1110G>C
ENST00000616242.5:c.*232G>C	ENSP00000482149.2:n.*232G>C
ENST00000683378.1:n.338G>C
ENST00000336642.9:c.146G>C	ENSP00000338009.5:p.Cys49Ser
ENST00000345378.7:c.1115G>C	ENSP00000223366.2:p.Cys372Ser
ENST00000403799.8:c.1112G>C MANE Select	ENSP00000384247.3:p.Cys371Ser
ENST00000671824.1:c.1175G>C	ENSP00000500264.1:p.Cys392Ser
ENST00000672743.1:n.124G>C
ENST00000673284.1:c.1112G>C	ENSP00000499852.1:p.Cys371Ser
ENST00000336642.8:c.164G>C	ENSP00000338009.4:p.Cys55Ser
ENST00000345378.6:c.1115G>C	ENSP00000223366.2:p.Cys372Ser
ENST00000395796.7:c.1109G>C	ENSP00000379142.3:p.Cys370Ser
ENST00000403799.7:c.1112G>C	ENSP00000384247.3:p.Cys371Ser
ENST00000437084.1:c.1061G>C	ENSP00000402840.1:p.Cys354Ser
ENST00000459642.1:n.492G>C
ENST00000616242.4:c.1109G>C	ENSP00000482149.1:p.Cys370Ser
NM_000162.3:c.1112G>C	NP_000153.1:p.Cys371Ser
NM_033507.1:c.1115G>C	NP_277042.1:p.Cys372Ser
NM_033508.1:c.1109G>C	NP_277043.1:p.Cys370Ser
NM_000162.4:c.1112G>C	NP_000153.1:p.Cys371Ser
NM_001354800.1:c.1112G>C	NP_001341729.1:p.Cys371Ser
NM_001354801.1:c.101G>C	NP_001341730.1:p.Cys34Ser
NM_001354802.1:c.-29G>C	NP_001341731.1:n.-29G>C
NM_001354803.1:c.146G>C	NP_001341732.1:p.Cys49Ser
NM_033507.2:c.1115G>C	NP_277042.1:p.Cys372Ser
NM_033508.2:c.1109G>C	NP_277043.1:p.Cys370Ser
XM_024446707.1:c.-29G>C	XP_024302475.1:n.-29G>C
NM_000162.5:c.1112G>C MANE Select	NP_000153.1:p.Cys371Ser
NM_033507.3:c.1115G>C	NP_277042.1:p.Cys372Ser
NM_033508.3:c.1109G>C	NP_277043.1:p.Cys370Ser
NM_001354803.2:c.146G>C	NP_001341732.1:p.Cys49Ser