Canonical Allele Identifier: CA1612384607

Gene: DTNBP1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.15627397G= , CM000668.2:g.15627397G=	GRCh38
NC_000006.11:g.15627628G= , CM000668.1:g.15627628G=	GRCh37
NC_000006.10:g.15735607G=	NCBI36
NG_009309.1:g.40644C= , LRG_588:g.40644C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344537.10:c.301C= MANE Select	ENSP00000341680.6:p.Leu101=
ENST00000338950.9:c.301C=	ENSP00000344718.5:p.Leu101=
ENST00000344537.9:c.301C=	ENSP00000341680.5:p.Leu101=
ENST00000355917.7:c.250C=	ENSP00000348183.4:p.Leu84=
ENST00000506844.1:c.*299C=	ENSP00000424202.1:n.*299C=
ENST00000510395.5:c.*211C=	ENSP00000424685.1:n.*211C=
ENST00000511762.2:c.196C=	ENSP00000427473.2:p.Leu66=
ENST00000513680.5:c.*299C=	ENSP00000424357.1:n.*299C=
ENST00000515875.5:c.250C=	ENSP00000425495.1:p.Leu84=
ENST00000622898.4:c.196C=	ENSP00000481997.1:p.Leu66=
NM_001271667.1:c.58C=	NP_001258596.1:p.Leu20=
NM_001271668.1:c.250C=	NP_001258597.1:p.Leu84=
NM_001271669.1:c.196C=	NP_001258598.1:p.Leu66=
NM_032122.4:c.301C= , LRG_588t1:c.301C=	NP_115498.2:p.Leu101=
NM_183040.2:c.301C= , LRG_588t2:c.301C=	NP_898861.1:p.Leu101=
NR_036448.1:n.629C=
XM_005249447.3:c.262C=	XP_005249504.1:p.Leu88=
XM_011514936.1:c.211C=	XP_011513238.1:p.Leu71=
XM_005249447.4:c.262C=	XP_005249504.1:p.Leu88=
XM_011514936.3:c.211C=	XP_011513238.1:p.Leu71=
NM_032122.5:c.301C= MANE Select	NP_115498.2:p.Leu101=
NR_036448.2:n.599C=
NM_001271667.2:c.58C=	NP_001258596.1:p.Leu20=
NM_001271668.2:c.250C=	NP_001258597.1:p.Leu84=
NM_001271669.2:c.196C=	NP_001258598.1:p.Leu66=
NR_036448.3:n.599C=