Canonical Allele Identifier: CA367400414

Gene: GCK

Linked Data

• MyVariant Identifiers: chr7:g.44187255T>G (hg19) ; chr7:g.44147656T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44147656T>G , CM000669.2:g.44147656T>G	GRCh38
NC_000007.13:g.44187255T>G , CM000669.1:g.44187255T>G	GRCh37
NC_000007.12:g.44153780T>G	NCBI36
NG_008847.1:g.46768A>C
NG_008847.2:g.55515A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395796.8:c.*855A>C	ENSP00000379142.4:n.*855A>C
ENST00000616242.5:c.853+4A>C	ENSP00000482149.2:n.853+4A>C
ENST00000345378.7:c.860A>C	ENSP00000223366.2:p.Gln287Pro
ENST00000403799.8:c.857A>C MANE Select	ENSP00000384247.3:p.Gln286Pro
ENST00000671824.1:c.853+4A>C	ENSP00000500264.1:n.853+4A>C
ENST00000673284.1:c.857A>C	ENSP00000499852.1:p.Gln286Pro
ENST00000345378.6:c.860A>C	ENSP00000223366.2:p.Gln287Pro
ENST00000395796.7:c.854A>C	ENSP00000379142.3:p.Gln285Pro
ENST00000403799.7:c.857A>C	ENSP00000384247.3:p.Gln286Pro
ENST00000437084.1:c.806A>C	ENSP00000402840.1:p.Gln269Pro
ENST00000616242.4:c.854A>C	ENSP00000482149.1:p.Gln285Pro
NM_000162.3:c.857A>C	NP_000153.1:p.Gln286Pro
NM_033507.1:c.860A>C	NP_277042.1:p.Gln287Pro
NM_033508.1:c.854A>C	NP_277043.1:p.Gln285Pro
NM_000162.4:c.857A>C	NP_000153.1:p.Gln286Pro
NM_001354800.1:c.857A>C	NP_001341729.1:p.Gln286Pro
NM_033507.2:c.860A>C	NP_277042.1:p.Gln287Pro
NM_033508.2:c.854A>C	NP_277043.1:p.Gln285Pro
NM_000162.5:c.857A>C MANE Select	NP_000153.1:p.Gln286Pro
NM_033507.3:c.860A>C	NP_277042.1:p.Gln287Pro
NM_033508.3:c.854A>C	NP_277043.1:p.Gln285Pro