Canonical Allele Identifier: CA152955

Gene: GCK

Linked Data

• ClinVar Variation Id: 129145
• ClinVar RCV Id: RCV000117132 ; RCV000497903 ; RCV001844042 ; RCV003343641
• dbSNP Id: rs587780346
• MyVariant Identifiers: chr7:g.44189422T>G (hg19) ; chr7:g.44149823T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44149823T>G , CM000669.2:g.44149823T>G	GRCh38
NC_000007.13:g.44189422T>G , CM000669.1:g.44189422T>G	GRCh37
NC_000007.12:g.44155947T>G	NCBI36
NG_008847.1:g.44601A>C
NG_008847.2:g.53348A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395796.8:c.*614A>C	ENSP00000379142.4:n.*614A>C
ENST00000616242.5:c.616A>C	ENSP00000482149.2:p.Thr206Pro
ENST00000682635.1:n.1102A>C
ENST00000345378.7:c.619A>C	ENSP00000223366.2:p.Thr207Pro
ENST00000403799.8:c.616A>C MANE Select	ENSP00000384247.3:p.Thr206Pro
ENST00000671824.1:c.616A>C	ENSP00000500264.1:p.Thr206Pro
ENST00000673284.1:c.616A>C	ENSP00000499852.1:p.Thr206Pro
ENST00000345378.6:c.619A>C	ENSP00000223366.2:p.Thr207Pro
ENST00000395796.7:c.613A>C	ENSP00000379142.3:p.Thr205Pro
ENST00000403799.7:c.616A>C	ENSP00000384247.3:p.Thr206Pro
ENST00000437084.1:c.565A>C	ENSP00000402840.1:p.Thr189Pro
ENST00000616242.4:c.613A>C	ENSP00000482149.1:p.Thr205Pro
NM_000162.3:c.616A>C	NP_000153.1:p.Thr206Pro
NM_033507.1:c.619A>C	NP_277042.1:p.Thr207Pro
NM_033508.1:c.613A>C	NP_277043.1:p.Thr205Pro
NM_000162.4:c.616A>C	NP_000153.1:p.Thr206Pro
NM_001354800.1:c.616A>C	NP_001341729.1:p.Thr206Pro
NM_033507.2:c.619A>C	NP_277042.1:p.Thr207Pro
NM_033508.2:c.613A>C	NP_277043.1:p.Thr205Pro
NM_000162.5:c.616A>C MANE Select	NP_000153.1:p.Thr206Pro
NM_033507.3:c.619A>C	NP_277042.1:p.Thr207Pro
NM_033508.3:c.613A>C	NP_277043.1:p.Thr205Pro