Canonical Allele Identifier: CA367401535

Gene: GCK

Linked Data

• MyVariant Identifiers: chr7:g.44189578T>A (hg19) ; chr7:g.44149979T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44149979T>A , CM000669.2:g.44149979T>A	GRCh38
NC_000007.13:g.44189578T>A , CM000669.1:g.44189578T>A	GRCh37
NC_000007.12:g.44156103T>A	NCBI36
NG_008847.1:g.44445A>T
NG_008847.2:g.53192A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000395796.8:c.*567A>T	ENSP00000379142.4:n.*567A>T
ENST00000616242.5:c.569A>T	ENSP00000482149.2:p.Lys190Ile
ENST00000682635.1:n.1055A>T
ENST00000345378.7:c.572A>T	ENSP00000223366.2:p.Lys191Ile
ENST00000403799.8:c.569A>T MANE Select	ENSP00000384247.3:p.Lys190Ile
ENST00000671824.1:c.569A>T	ENSP00000500264.1:p.Lys190Ile
ENST00000673284.1:c.569A>T	ENSP00000499852.1:p.Lys190Ile
ENST00000345378.6:c.572A>T	ENSP00000223366.2:p.Lys191Ile
ENST00000395796.7:c.566A>T	ENSP00000379142.3:p.Lys189Ile
ENST00000403799.7:c.569A>T	ENSP00000384247.3:p.Lys190Ile
ENST00000437084.1:c.518A>T	ENSP00000402840.1:p.Lys173Ile
ENST00000616242.4:c.566A>T	ENSP00000482149.1:p.Lys189Ile
NM_000162.3:c.569A>T	NP_000153.1:p.Lys190Ile
NM_033507.1:c.572A>T	NP_277042.1:p.Lys191Ile
NM_033508.1:c.566A>T	NP_277043.1:p.Lys189Ile
NM_000162.4:c.569A>T	NP_000153.1:p.Lys190Ile
NM_001354800.1:c.569A>T	NP_001341729.1:p.Lys190Ile
NM_033507.2:c.572A>T	NP_277042.1:p.Lys191Ile
NM_033508.2:c.566A>T	NP_277043.1:p.Lys189Ile
NM_000162.5:c.569A>T MANE Select	NP_000153.1:p.Lys190Ile
NM_033507.3:c.572A>T	NP_277042.1:p.Lys191Ile
NM_033508.3:c.566A>T	NP_277043.1:p.Lys189Ile