Canonical Allele Identifier: CA3643671

Gene: DTNBP1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.15523079C>T , CM000668.2:g.15523079C>T	GRCh38
NC_000006.11:g.15523310C>T , CM000668.1:g.15523310C>T	GRCh37
NC_000006.10:g.15631289C>T	NCBI36
NG_009309.1:g.144962G>A , LRG_588:g.144962G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344537.10:c.952G>A MANE Select	ENSP00000341680.6:p.Val318Ile
ENST00000344537.9:c.952G>A	ENSP00000341680.5:p.Val318Ile
ENST00000355917.7:c.901G>A	ENSP00000348183.4:p.Val301Ile
ENST00000462989.6:c.484G>A	ENSP00000427239.1:p.Val162Ile
ENST00000509674.1:c.403G>A	ENSP00000421797.1:p.Val135Ile
ENST00000510395.5:c.*862G>A	ENSP00000424685.1:n.*862G>A
ENST00000513680.5:c.*952G>A	ENSP00000424357.1:n.*952G>A
ENST00000515875.5:c.*276G>A	ENSP00000425495.1:n.*276G>A
ENST00000622898.4:c.847G>A	ENSP00000481997.1:p.Val283Ile
NM_001271667.1:c.709G>A	NP_001258596.1:p.Val237Ile
NM_001271668.1:c.901G>A	NP_001258597.1:p.Val301Ile
NM_001271669.1:c.847G>A	NP_001258598.1:p.Val283Ile
NM_032122.4:c.952G>A , LRG_588t1:c.952G>A	NP_115498.2:p.Val318Ile
XM_005249447.3:c.913G>A	XP_005249504.1:p.Val305Ile
XM_011514936.1:c.862G>A	XP_011513238.1:p.Val288Ile
XM_011514937.1:c.484G>A	XP_011513239.1:p.Val162Ile
XM_005249447.4:c.913G>A	XP_005249504.1:p.Val305Ile
XM_011514936.3:c.862G>A	XP_011513238.1:p.Val288Ile
XM_011514937.2:c.484G>A	XP_011513239.1:p.Val162Ile
XM_017011348.1:c.502G>A	XP_016866837.1:p.Val168Ile
XM_017011349.1:c.499G>A	XP_016866838.1:p.Val167Ile
XM_024446567.1:c.553G>A	XP_024302335.1:p.Val185Ile
NM_032122.5:c.952G>A MANE Select	NP_115498.2:p.Val318Ile
NM_001271667.2:c.709G>A	NP_001258596.1:p.Val237Ile
NM_001271668.2:c.901G>A	NP_001258597.1:p.Val301Ile
NM_001271669.2:c.847G>A	NP_001258598.1:p.Val283Ile