Canonical Allele Identifier: CA1612359692

Gene: DTNBP1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.15637789C= , CM000668.2:g.15637789C=	GRCh38
NC_000006.11:g.15638020C= , CM000668.1:g.15638020C=	GRCh37
NC_000006.10:g.15745999C=	NCBI36
NG_009309.1:g.30252G= , LRG_588:g.30252G=

Transcript Alleles

HGVS	Amino-acid Change
NM_032122.5:c.177G= MANE Select	NP_115498.2:p.Trp59=
ENST00000344537.10:c.177G= MANE Select	ENSP00000341680.6:p.Trp59=
NM_001271667.1:c.-67G=	NP_001258596.1:n.-67G=
NM_001271667.2:c.-67G=	NP_001258596.1:n.-67G=
NM_001271668.1:c.126G=	NP_001258597.1:p.Trp42=
NM_001271668.2:c.126G=	NP_001258597.1:p.Trp42=
NM_001271669.1:c.72G=	NP_001258598.1:p.Trp24=
NM_001271669.2:c.72G=	NP_001258598.1:p.Trp24=
NM_032122.4:c.177G= , LRG_588t1:c.177G=	NP_115498.2:p.Trp59=
NM_183040.2:c.177G= , LRG_588t2:c.177G=	NP_898861.1:p.Trp59=
NR_036448.1:n.505G=
NR_036448.2:n.475G=
NR_036448.3:n.475G=
ENST00000338950.9:c.177G=	ENSP00000344718.5:p.Trp59=
ENST00000344537.9:c.177G=	ENSP00000341680.5:p.Trp59=
ENST00000355917.7:c.126G=	ENSP00000348183.4:p.Trp42=
ENST00000506844.1:c.*175G=	ENSP00000424202.1:n.*175G=
ENST00000510395.5:c.*87G=	ENSP00000424685.1:n.*87G=
ENST00000511762.2:c.72G=	ENSP00000427473.2:p.Trp24=
ENST00000513680.5:c.*175G=	ENSP00000424357.1:n.*175G=
ENST00000515875.5:c.126G=	ENSP00000425495.1:p.Trp42=
ENST00000622898.4:c.72G=	ENSP00000481997.1:p.Trp24=
XM_005249447.3:c.138G=	XP_005249504.1:p.Trp46=
XM_005249447.4:c.138G=	XP_005249504.1:p.Trp46=
XM_011514936.1:c.87G=	XP_011513238.1:p.Trp29=
XM_011514936.3:c.87G=	XP_011513238.1:p.Trp29=