Canonical Allele Identifier: CA3643689

Gene: DTNBP1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.15523108C>T , CM000668.2:g.15523108C>T	GRCh38
NC_000006.11:g.15523339C>T , CM000668.1:g.15523339C>T	GRCh37
NC_000006.10:g.15631318C>T	NCBI36
NG_009309.1:g.144933G>A , LRG_588:g.144933G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344537.10:c.923G>A MANE Select	ENSP00000341680.6:p.Arg308Gln
ENST00000344537.9:c.923G>A	ENSP00000341680.5:p.Arg308Gln
ENST00000355917.7:c.872G>A	ENSP00000348183.4:p.Arg291Gln
ENST00000462989.6:c.455G>A	ENSP00000427239.1:p.Arg152Gln
ENST00000509674.1:c.374G>A	ENSP00000421797.1:p.Arg125Gln
ENST00000510395.5:c.*833G>A	ENSP00000424685.1:n.*833G>A
ENST00000513680.5:c.*923G>A	ENSP00000424357.1:n.*923G>A
ENST00000515875.5:c.*247G>A	ENSP00000425495.1:n.*247G>A
ENST00000622898.4:c.818G>A	ENSP00000481997.1:p.Arg273Gln
NM_001271667.1:c.680G>A	NP_001258596.1:p.Arg227Gln
NM_001271668.1:c.872G>A	NP_001258597.1:p.Arg291Gln
NM_001271669.1:c.818G>A	NP_001258598.1:p.Arg273Gln
NM_032122.4:c.923G>A , LRG_588t1:c.923G>A	NP_115498.2:p.Arg308Gln
XM_005249447.3:c.884G>A	XP_005249504.1:p.Arg295Gln
XM_011514936.1:c.833G>A	XP_011513238.1:p.Arg278Gln
XM_011514937.1:c.455G>A	XP_011513239.1:p.Arg152Gln
XM_005249447.4:c.884G>A	XP_005249504.1:p.Arg295Gln
XM_011514936.3:c.833G>A	XP_011513238.1:p.Arg278Gln
XM_011514937.2:c.455G>A	XP_011513239.1:p.Arg152Gln
XM_017011348.1:c.473G>A	XP_016866837.1:p.Arg158Gln
XM_017011349.1:c.470G>A	XP_016866838.1:p.Arg157Gln
XM_024446567.1:c.524G>A	XP_024302335.1:p.Arg175Gln
NM_032122.5:c.923G>A MANE Select	NP_115498.2:p.Arg308Gln
NM_001271667.2:c.680G>A	NP_001258596.1:p.Arg227Gln
NM_001271668.2:c.872G>A	NP_001258597.1:p.Arg291Gln
NM_001271669.2:c.818G>A	NP_001258598.1:p.Arg273Gln