Canonical Allele Identifier: CA16618473

Gene: GCK

Linked Data

• ClinVar Variation Id: 418225
• ClinVar RCV Id: RCV000479407 ; RCV002402377
• dbSNP Id: rs1057520109
• MyVariant Identifiers: chr7:g.44192937C>T (hg19) ; chr7:g.44153338C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44153338C>T , CM000669.2:g.44153338C>T	GRCh38
NC_000007.13:g.44192937C>T , CM000669.1:g.44192937C>T	GRCh37
NC_000007.12:g.44159462C>T	NCBI36
NG_008847.1:g.41086G>A
NG_008847.2:g.49833G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000395796.8:c.*169G>A	ENSP00000379142.4:n.*169G>A
ENST00000616242.5:c.171G>A	ENSP00000482149.2:p.Met57Ile
ENST00000682635.1:n.657G>A
ENST00000345378.7:c.174G>A	ENSP00000223366.2:p.Met58Ile
ENST00000403799.8:c.171G>A MANE Select	ENSP00000384247.3:p.Met57Ile
ENST00000671824.1:c.171G>A	ENSP00000500264.1:p.Met57Ile
ENST00000673284.1:c.171G>A	ENSP00000499852.1:p.Met57Ile
ENST00000345378.6:c.174G>A	ENSP00000223366.2:p.Met58Ile
ENST00000395796.7:c.168G>A	ENSP00000379142.3:p.Met56Ile
ENST00000403799.7:c.171G>A	ENSP00000384247.3:p.Met57Ile
ENST00000437084.1:c.171G>A	ENSP00000402840.1:p.Met57Ile
ENST00000616242.4:c.168G>A	ENSP00000482149.1:p.Met56Ile
NM_000162.3:c.171G>A	NP_000153.1:p.Met57Ile
NM_033507.1:c.174G>A	NP_277042.1:p.Met58Ile
NM_033508.1:c.168G>A	NP_277043.1:p.Met56Ile
NM_000162.4:c.171G>A	NP_000153.1:p.Met57Ile
NM_001354800.1:c.171G>A	NP_001341729.1:p.Met57Ile
NM_033507.2:c.174G>A	NP_277042.1:p.Met58Ile
NM_033508.2:c.168G>A	NP_277043.1:p.Met56Ile
NM_000162.5:c.171G>A MANE Select	NP_000153.1:p.Met57Ile
NM_033507.3:c.174G>A	NP_277042.1:p.Met58Ile
NM_033508.3:c.168G>A	NP_277043.1:p.Met56Ile