Canonical Allele Identifier: CA3643648

Gene: DTNBP1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.15522997C>T , CM000668.2:g.15522997C>T	GRCh38
NC_000006.11:g.15523228C>T , CM000668.1:g.15523228C>T	GRCh37
NC_000006.10:g.15631207C>T	NCBI36
NG_009309.1:g.145044G>A , LRG_588:g.145044G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344537.10:c.1034G>A MANE Select	ENSP00000341680.6:p.Gly345Asp
ENST00000344537.9:c.1034G>A	ENSP00000341680.5:p.Gly345Asp
ENST00000355917.7:c.983G>A	ENSP00000348183.4:p.Gly328Asp
ENST00000462989.6:c.566G>A	ENSP00000427239.1:p.Gly189Asp
ENST00000510395.5:c.*944G>A	ENSP00000424685.1:n.*944G>A
ENST00000513680.5:c.*1034G>A	ENSP00000424357.1:n.*1034G>A
ENST00000515875.5:c.*358G>A	ENSP00000425495.1:n.*358G>A
ENST00000622898.4:c.929G>A	ENSP00000481997.1:p.Gly310Asp
NM_001271667.1:c.791G>A	NP_001258596.1:p.Gly264Asp
NM_001271668.1:c.983G>A	NP_001258597.1:p.Gly328Asp
NM_001271669.1:c.929G>A	NP_001258598.1:p.Gly310Asp
NM_032122.4:c.1034G>A , LRG_588t1:c.1034G>A	NP_115498.2:p.Gly345Asp
XM_005249447.3:c.995G>A	XP_005249504.1:p.Gly332Asp
XM_011514936.1:c.944G>A	XP_011513238.1:p.Gly315Asp
XM_011514937.1:c.566G>A	XP_011513239.1:p.Gly189Asp
XM_005249447.4:c.995G>A	XP_005249504.1:p.Gly332Asp
XM_011514936.3:c.944G>A	XP_011513238.1:p.Gly315Asp
XM_011514937.2:c.566G>A	XP_011513239.1:p.Gly189Asp
XM_017011348.1:c.584G>A	XP_016866837.1:p.Gly195Asp
XM_017011349.1:c.581G>A	XP_016866838.1:p.Gly194Asp
XM_024446567.1:c.635G>A	XP_024302335.1:p.Gly212Asp
NM_032122.5:c.1034G>A MANE Select	NP_115498.2:p.Gly345Asp
NM_001271667.2:c.791G>A	NP_001258596.1:p.Gly264Asp
NM_001271668.2:c.983G>A	NP_001258597.1:p.Gly328Asp
NM_001271669.2:c.929G>A	NP_001258598.1:p.Gly310Asp