Canonical Allele Identifier: CA367400243

Gene: GCK

Linked Data

• MyVariant Identifiers: chr7:g.44186215T>A (hg19) ; chr7:g.44146616T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44146616T>A , CM000669.2:g.44146616T>A	GRCh38
NC_000007.13:g.44186215T>A , CM000669.1:g.44186215T>A	GRCh37
NC_000007.12:g.44152740T>A	NCBI36
NG_008847.1:g.47808A>T
NG_008847.2:g.56555A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395796.8:c.*864A>T	ENSP00000379142.4:n.*864A>T
ENST00000616242.5:c.856A>T	ENSP00000482149.2:p.Met286Leu
ENST00000683378.1:n.92A>T
ENST00000345378.7:c.869A>T	ENSP00000223366.2:p.Tyr290Phe
ENST00000403799.8:c.866A>T MANE Select	ENSP00000384247.3:p.Tyr289Phe
ENST00000671824.1:c.929A>T	ENSP00000500264.1:p.Tyr310Phe
ENST00000673284.1:c.866A>T	ENSP00000499852.1:p.Tyr289Phe
ENST00000345378.6:c.869A>T	ENSP00000223366.2:p.Tyr290Phe
ENST00000395796.7:c.863A>T	ENSP00000379142.3:p.Tyr288Phe
ENST00000403799.7:c.866A>T	ENSP00000384247.3:p.Tyr289Phe
ENST00000437084.1:c.815A>T	ENSP00000402840.1:p.Tyr272Phe
ENST00000473353.1:n.164A>T
ENST00000616242.4:c.863A>T	ENSP00000482149.1:p.Tyr288Phe
NM_000162.3:c.866A>T	NP_000153.1:p.Tyr289Phe
NM_033507.1:c.869A>T	NP_277042.1:p.Tyr290Phe
NM_033508.1:c.863A>T	NP_277043.1:p.Tyr288Phe
NM_000162.4:c.866A>T	NP_000153.1:p.Tyr289Phe
NM_001354800.1:c.866A>T	NP_001341729.1:p.Tyr289Phe
NM_001354801.1:c.8+3A>T	NP_001341730.1:n.8+3A>T
NM_033507.2:c.869A>T	NP_277042.1:p.Tyr290Phe
NM_033508.2:c.863A>T	NP_277043.1:p.Tyr288Phe
NM_000162.5:c.866A>T MANE Select	NP_000153.1:p.Tyr289Phe
NM_033507.3:c.869A>T	NP_277042.1:p.Tyr290Phe
NM_033508.3:c.863A>T	NP_277043.1:p.Tyr288Phe