Canonical Allele Identifier: CA3643715

Gene: DTNBP1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.15523187T>C , CM000668.2:g.15523187T>C	GRCh38
NC_000006.11:g.15523418T>C , CM000668.1:g.15523418T>C	GRCh37
NC_000006.10:g.15631397T>C	NCBI36
NG_009309.1:g.144854A>G , LRG_588:g.144854A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_032122.5:c.844A>G MANE Select	NP_115498.2:p.Thr282Ala
ENST00000344537.10:c.844A>G MANE Select	ENSP00000341680.6:p.Thr282Ala
NM_001271667.1:c.601A>G	NP_001258596.1:p.Thr201Ala
NM_001271667.2:c.601A>G	NP_001258596.1:p.Thr201Ala
NM_001271668.1:c.793A>G	NP_001258597.1:p.Thr265Ala
NM_001271668.2:c.793A>G	NP_001258597.1:p.Thr265Ala
NM_001271669.1:c.739A>G	NP_001258598.1:p.Thr247Ala
NM_001271669.2:c.739A>G	NP_001258598.1:p.Thr247Ala
NM_032122.4:c.844A>G , LRG_588t1:c.844A>G	NP_115498.2:p.Thr282Ala
ENST00000344537.9:c.844A>G	ENSP00000341680.5:p.Thr282Ala
ENST00000355917.7:c.793A>G	ENSP00000348183.4:p.Thr265Ala
ENST00000462989.6:c.376A>G	ENSP00000427239.1:p.Thr126Ala
ENST00000509674.1:c.295A>G	ENSP00000421797.1:p.Thr99Ala
ENST00000510395.5:c.*754A>G	ENSP00000424685.1:n.*754A>G
ENST00000513680.5:c.*844A>G	ENSP00000424357.1:n.*844A>G
ENST00000515875.5:c.*168A>G	ENSP00000425495.1:n.*168A>G
ENST00000622898.4:c.739A>G	ENSP00000481997.1:p.Thr247Ala
XM_005249447.3:c.805A>G	XP_005249504.1:p.Thr269Ala
XM_005249447.4:c.805A>G	XP_005249504.1:p.Thr269Ala
XM_011514936.1:c.754A>G	XP_011513238.1:p.Thr252Ala
XM_011514936.3:c.754A>G	XP_011513238.1:p.Thr252Ala
XM_011514937.1:c.376A>G	XP_011513239.1:p.Thr126Ala
XM_011514937.2:c.376A>G	XP_011513239.1:p.Thr126Ala
XM_017011348.1:c.394A>G	XP_016866837.1:p.Thr132Ala
XM_017011349.1:c.391A>G	XP_016866838.1:p.Thr131Ala
XM_024446567.1:c.445A>G	XP_024302335.1:p.Thr149Ala