Canonical Allele Identifier: CA367401144

Gene: GCK

Linked Data

• MyVariant Identifiers: chr7:g.44189366C>G (hg19) ; chr7:g.44149767C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44149767C>G , CM000669.2:g.44149767C>G	GRCh38
NC_000007.13:g.44189366C>G , CM000669.1:g.44189366C>G	GRCh37
NC_000007.12:g.44155891C>G	NCBI36
NG_008847.1:g.44657G>C
NG_008847.2:g.53404G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000395796.8:c.*670G>C	ENSP00000379142.4:n.*670G>C
ENST00000616242.5:c.672G>C	ENSP00000482149.2:p.Met224Ile
ENST00000682635.1:n.1158G>C
ENST00000345378.7:c.675G>C	ENSP00000223366.2:p.Met225Ile
ENST00000403799.8:c.672G>C MANE Select	ENSP00000384247.3:p.Met224Ile
ENST00000671824.1:c.672G>C	ENSP00000500264.1:p.Met224Ile
ENST00000673284.1:c.672G>C	ENSP00000499852.1:p.Met224Ile
ENST00000345378.6:c.675G>C	ENSP00000223366.2:p.Met225Ile
ENST00000395796.7:c.669G>C	ENSP00000379142.3:p.Met223Ile
ENST00000403799.7:c.672G>C	ENSP00000384247.3:p.Met224Ile
ENST00000437084.1:c.621G>C	ENSP00000402840.1:p.Met207Ile
ENST00000616242.4:c.669G>C	ENSP00000482149.1:p.Met223Ile
NM_000162.3:c.672G>C	NP_000153.1:p.Met224Ile
NM_033507.1:c.675G>C	NP_277042.1:p.Met225Ile
NM_033508.1:c.669G>C	NP_277043.1:p.Met223Ile
XR_927223.1:n.282C>G
NM_000162.4:c.672G>C	NP_000153.1:p.Met224Ile
NM_001354800.1:c.672G>C	NP_001341729.1:p.Met224Ile
NM_033507.2:c.675G>C	NP_277042.1:p.Met225Ile
NM_033508.2:c.669G>C	NP_277043.1:p.Met223Ile
XR_927223.2:n.282C>G
NM_000162.5:c.672G>C MANE Select	NP_000153.1:p.Met224Ile
NM_033507.3:c.675G>C	NP_277042.1:p.Met225Ile
NM_033508.3:c.669G>C	NP_277043.1:p.Met223Ile