Canonical Allele Identifier: CA367396759

Gene: GCK

Linked Data

• MyVariant Identifiers: chr7:g.44184748A>G (hg19) ; chr7:g.44145149A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44145149A>G , CM000669.2:g.44145149A>G	GRCh38
NC_000007.13:g.44184748A>G , CM000669.1:g.44184748A>G	GRCh37
NC_000007.12:g.44151273A>G	NCBI36
NG_008847.1:g.49275T>C
NG_008847.2:g.58022T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395796.8:c.*1383T>C	ENSP00000379142.4:n.*1383T>C
ENST00000616242.5:c.*505T>C	ENSP00000482149.2:n.*505T>C
ENST00000683378.1:n.611T>C
ENST00000336642.9:c.419T>C	ENSP00000338009.5:p.Met140Thr
ENST00000345378.7:c.1388T>C	ENSP00000223366.2:p.Met463Thr
ENST00000403799.8:c.1385T>C MANE Select	ENSP00000384247.3:p.Met462Thr
ENST00000671824.1:c.1448T>C	ENSP00000500264.1:p.Met483Thr
ENST00000672743.1:n.381+16T>C
ENST00000673284.1:c.1369+16T>C	ENSP00000499852.1:n.1369+16T>C
ENST00000336642.8:c.437T>C	ENSP00000338009.4:p.Met146Thr
ENST00000345378.6:c.1388T>C	ENSP00000223366.2:p.Met463Thr
ENST00000395796.7:c.1382T>C	ENSP00000379142.3:p.Met461Thr
ENST00000403799.7:c.1385T>C	ENSP00000384247.3:p.Met462Thr
ENST00000437084.1:c.1334T>C	ENSP00000402840.1:p.Met445Thr
ENST00000459642.1:n.765T>C
ENST00000616242.4:c.1382T>C	ENSP00000482149.1:p.Met461Thr
NM_000162.3:c.1385T>C	NP_000153.1:p.Met462Thr
NM_033507.1:c.1388T>C	NP_277042.1:p.Met463Thr
NM_033508.1:c.1382T>C	NP_277043.1:p.Met461Thr
NM_000162.4:c.1385T>C	NP_000153.1:p.Met462Thr
NM_001354800.1:c.1369+16T>C	NP_001341729.1:n.1369+16T>C
NM_001354801.1:c.374T>C	NP_001341730.1:p.Met125Thr
NM_001354802.1:c.229+16T>C	NP_001341731.1:n.229+16T>C
NM_001354803.1:c.419T>C	NP_001341732.1:p.Met140Thr
NM_033507.2:c.1388T>C	NP_277042.1:p.Met463Thr
NM_033508.2:c.1382T>C	NP_277043.1:p.Met461Thr
XM_024446707.1:c.245T>C	XP_024302475.1:p.Met82Thr
NM_000162.5:c.1385T>C MANE Select	NP_000153.1:p.Met462Thr
NM_033507.3:c.1388T>C	NP_277042.1:p.Met463Thr
NM_033508.3:c.1382T>C	NP_277043.1:p.Met461Thr
NM_001354803.2:c.419T>C	NP_001341732.1:p.Met140Thr