Canonical Allele Identifier: CA1612359664

Gene: DTNBP1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.15637780A= , CM000668.2:g.15637780A=	GRCh38
NC_000006.11:g.15638011A= , CM000668.1:g.15638011A=	GRCh37
NC_000006.10:g.15745990A=	NCBI36
NG_009309.1:g.30261T= , LRG_588:g.30261T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344537.10:c.186T= MANE Select	ENSP00000341680.6:p.Leu62=
ENST00000338950.9:c.186T=	ENSP00000344718.5:p.Leu62=
ENST00000344537.9:c.186T=	ENSP00000341680.5:p.Leu62=
ENST00000355917.7:c.135T=	ENSP00000348183.4:p.Leu45=
ENST00000506844.1:c.*184T=	ENSP00000424202.1:n.*184T=
ENST00000510395.5:c.*96T=	ENSP00000424685.1:n.*96T=
ENST00000511762.2:c.81T=	ENSP00000427473.2:p.Leu27=
ENST00000513680.5:c.*184T=	ENSP00000424357.1:n.*184T=
ENST00000515875.5:c.135T=	ENSP00000425495.1:p.Leu45=
ENST00000622898.4:c.81T=	ENSP00000481997.1:p.Leu27=
NM_001271667.1:c.-58T=	NP_001258596.1:n.-58T=
NM_001271668.1:c.135T=	NP_001258597.1:p.Leu45=
NM_001271669.1:c.81T=	NP_001258598.1:p.Leu27=
NM_032122.4:c.186T= , LRG_588t1:c.186T=	NP_115498.2:p.Leu62=
NM_183040.2:c.186T= , LRG_588t2:c.186T=	NP_898861.1:p.Leu62=
NR_036448.1:n.514T=
XM_005249447.3:c.147T=	XP_005249504.1:p.Leu49=
XM_011514936.1:c.96T=	XP_011513238.1:p.Leu32=
XM_005249447.4:c.147T=	XP_005249504.1:p.Leu49=
XM_011514936.3:c.96T=	XP_011513238.1:p.Leu32=
NM_032122.5:c.186T= MANE Select	NP_115498.2:p.Leu62=
NR_036448.2:n.484T=
NM_001271667.2:c.-58T=	NP_001258596.1:n.-58T=
NM_001271668.2:c.135T=	NP_001258597.1:p.Leu45=
NM_001271669.2:c.81T=	NP_001258598.1:p.Leu27=
NR_036448.3:n.484T=