Canonical Allele Identifier: CA362804894

Gene: DTNBP1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.15523058C>A , CM000668.2:g.15523058C>A	GRCh38
NC_000006.11:g.15523289C>A , CM000668.1:g.15523289C>A	GRCh37
NC_000006.10:g.15631268C>A	NCBI36
NG_009309.1:g.144983G>T , LRG_588:g.144983G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344537.10:c.973G>T MANE Select	ENSP00000341680.6:p.Glu325Ter
ENST00000344537.9:c.973G>T	ENSP00000341680.5:p.Glu325Ter
ENST00000355917.7:c.922G>T	ENSP00000348183.4:p.Glu308Ter
ENST00000462989.6:c.505G>T	ENSP00000427239.1:p.Glu169Ter
ENST00000509674.1:c.424G>T	ENSP00000421797.1:p.Glu142Ter
ENST00000510395.5:c.*883G>T	ENSP00000424685.1:n.*883G>T
ENST00000513680.5:c.*973G>T	ENSP00000424357.1:n.*973G>T
ENST00000515875.5:c.*297G>T	ENSP00000425495.1:n.*297G>T
ENST00000622898.4:c.868G>T	ENSP00000481997.1:p.Glu290Ter
NM_001271667.1:c.730G>T	NP_001258596.1:p.Glu244Ter
NM_001271668.1:c.922G>T	NP_001258597.1:p.Glu308Ter
NM_001271669.1:c.868G>T	NP_001258598.1:p.Glu290Ter
NM_032122.4:c.973G>T , LRG_588t1:c.973G>T	NP_115498.2:p.Glu325Ter
XM_005249447.3:c.934G>T	XP_005249504.1:p.Glu312Ter
XM_011514936.1:c.883G>T	XP_011513238.1:p.Glu295Ter
XM_011514937.1:c.505G>T	XP_011513239.1:p.Glu169Ter
XM_005249447.4:c.934G>T	XP_005249504.1:p.Glu312Ter
XM_011514936.3:c.883G>T	XP_011513238.1:p.Glu295Ter
XM_011514937.2:c.505G>T	XP_011513239.1:p.Glu169Ter
XM_017011348.1:c.523G>T	XP_016866837.1:p.Glu175Ter
XM_017011349.1:c.520G>T	XP_016866838.1:p.Glu174Ter
XM_024446567.1:c.574G>T	XP_024302335.1:p.Glu192Ter
NM_032122.5:c.973G>T MANE Select	NP_115498.2:p.Glu325Ter
NM_001271667.2:c.730G>T	NP_001258596.1:p.Glu244Ter
NM_001271668.2:c.922G>T	NP_001258597.1:p.Glu308Ter
NM_001271669.2:c.868G>T	NP_001258598.1:p.Glu290Ter