Canonical Allele Identifier: CA3643705

Gene: DTNBP1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.15523145G>A , CM000668.2:g.15523145G>A	GRCh38
NC_000006.11:g.15523376G>A , CM000668.1:g.15523376G>A	GRCh37
NC_000006.10:g.15631355G>A	NCBI36
NG_009309.1:g.144896C>T , LRG_588:g.144896C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_032122.5:c.886C>T MANE Select	NP_115498.2:p.Pro296Ser
ENST00000344537.10:c.886C>T MANE Select	ENSP00000341680.6:p.Pro296Ser
NM_001271667.1:c.643C>T	NP_001258596.1:p.Pro215Ser
NM_001271667.2:c.643C>T	NP_001258596.1:p.Pro215Ser
NM_001271668.1:c.835C>T	NP_001258597.1:p.Pro279Ser
NM_001271668.2:c.835C>T	NP_001258597.1:p.Pro279Ser
NM_001271669.1:c.781C>T	NP_001258598.1:p.Pro261Ser
NM_001271669.2:c.781C>T	NP_001258598.1:p.Pro261Ser
NM_032122.4:c.886C>T , LRG_588t1:c.886C>T	NP_115498.2:p.Pro296Ser
ENST00000344537.9:c.886C>T	ENSP00000341680.5:p.Pro296Ser
ENST00000355917.7:c.835C>T	ENSP00000348183.4:p.Pro279Ser
ENST00000462989.6:c.418C>T	ENSP00000427239.1:p.Pro140Ser
ENST00000509674.1:c.337C>T	ENSP00000421797.1:p.Pro113Ser
ENST00000510395.5:c.*796C>T	ENSP00000424685.1:n.*796C>T
ENST00000513680.5:c.*886C>T	ENSP00000424357.1:n.*886C>T
ENST00000515875.5:c.*210C>T	ENSP00000425495.1:n.*210C>T
ENST00000622898.4:c.781C>T	ENSP00000481997.1:p.Pro261Ser
XM_005249447.3:c.847C>T	XP_005249504.1:p.Pro283Ser
XM_005249447.4:c.847C>T	XP_005249504.1:p.Pro283Ser
XM_011514936.1:c.796C>T	XP_011513238.1:p.Pro266Ser
XM_011514936.3:c.796C>T	XP_011513238.1:p.Pro266Ser
XM_011514937.1:c.418C>T	XP_011513239.1:p.Pro140Ser
XM_011514937.2:c.418C>T	XP_011513239.1:p.Pro140Ser
XM_017011348.1:c.436C>T	XP_016866837.1:p.Pro146Ser
XM_017011349.1:c.433C>T	XP_016866838.1:p.Pro145Ser
XM_024446567.1:c.487C>T	XP_024302335.1:p.Pro163Ser