Canonical Allele Identifier: CA1612384624

Gene: DTNBP1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.15627434C= , CM000668.2:g.15627434C=	GRCh38
NC_000006.11:g.15627665C= , CM000668.1:g.15627665C=	GRCh37
NC_000006.10:g.15735644C=	NCBI36
NG_009309.1:g.40607G= , LRG_588:g.40607G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344537.10:c.264G= MANE Select	ENSP00000341680.6:p.Glu88=
ENST00000338950.9:c.264G=	ENSP00000344718.5:p.Glu88=
ENST00000344537.9:c.264G=	ENSP00000341680.5:p.Glu88=
ENST00000355917.7:c.213G=	ENSP00000348183.4:p.Glu71=
ENST00000506844.1:c.*262G=	ENSP00000424202.1:n.*262G=
ENST00000510395.5:c.*174G=	ENSP00000424685.1:n.*174G=
ENST00000511762.2:c.159G=	ENSP00000427473.2:p.Glu53=
ENST00000513680.5:c.*262G=	ENSP00000424357.1:n.*262G=
ENST00000515875.5:c.213G=	ENSP00000425495.1:p.Glu71=
ENST00000622898.4:c.159G=	ENSP00000481997.1:p.Glu53=
NM_001271667.1:c.21G=	NP_001258596.1:p.Glu7=
NM_001271668.1:c.213G=	NP_001258597.1:p.Glu71=
NM_001271669.1:c.159G=	NP_001258598.1:p.Glu53=
NM_032122.4:c.264G= , LRG_588t1:c.264G=	NP_115498.2:p.Glu88=
NM_183040.2:c.264G= , LRG_588t2:c.264G=	NP_898861.1:p.Glu88=
NR_036448.1:n.592G=
XM_005249447.3:c.225G=	XP_005249504.1:p.Glu75=
XM_011514936.1:c.174G=	XP_011513238.1:p.Glu58=
XM_005249447.4:c.225G=	XP_005249504.1:p.Glu75=
XM_011514936.3:c.174G=	XP_011513238.1:p.Glu58=
NM_032122.5:c.264G= MANE Select	NP_115498.2:p.Glu88=
NR_036448.2:n.562G=
NM_001271667.2:c.21G=	NP_001258596.1:p.Glu7=
NM_001271668.2:c.213G=	NP_001258597.1:p.Glu71=
NM_001271669.2:c.159G=	NP_001258598.1:p.Glu53=
NR_036448.3:n.562G=