Canonical Allele Identifier: CA1612384638

Gene: DTNBP1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.15627464G= , CM000668.2:g.15627464G=	GRCh38
NC_000006.11:g.15627695G= , CM000668.1:g.15627695G=	GRCh37
NC_000006.10:g.15735674G=	NCBI36
NG_009309.1:g.40577C= , LRG_588:g.40577C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344537.10:c.234C= MANE Select	ENSP00000341680.6:p.Ser78=
ENST00000338950.9:c.234C=	ENSP00000344718.5:p.Ser78=
ENST00000344537.9:c.234C=	ENSP00000341680.5:p.Ser78=
ENST00000355917.7:c.183C=	ENSP00000348183.4:p.Ser61=
ENST00000506844.1:c.*232C=	ENSP00000424202.1:n.*232C=
ENST00000510395.5:c.*144C=	ENSP00000424685.1:n.*144C=
ENST00000511762.2:c.129C=	ENSP00000427473.2:p.Ser43=
ENST00000513680.5:c.*232C=	ENSP00000424357.1:n.*232C=
ENST00000515875.5:c.183C=	ENSP00000425495.1:p.Ser61=
ENST00000622898.4:c.129C=	ENSP00000481997.1:p.Ser43=
NM_001271667.1:c.-10C=	NP_001258596.1:n.-10C=
NM_001271668.1:c.183C=	NP_001258597.1:p.Ser61=
NM_001271669.1:c.129C=	NP_001258598.1:p.Ser43=
NM_032122.4:c.234C= , LRG_588t1:c.234C=	NP_115498.2:p.Ser78=
NM_183040.2:c.234C= , LRG_588t2:c.234C=	NP_898861.1:p.Ser78=
NR_036448.1:n.562C=
XM_005249447.3:c.195C=	XP_005249504.1:p.Ser65=
XM_011514936.1:c.144C=	XP_011513238.1:p.Ser48=
XM_005249447.4:c.195C=	XP_005249504.1:p.Ser65=
XM_011514936.3:c.144C=	XP_011513238.1:p.Ser48=
NM_032122.5:c.234C= MANE Select	NP_115498.2:p.Ser78=
NR_036448.2:n.532C=
NM_001271667.2:c.-10C=	NP_001258596.1:n.-10C=
NM_001271668.2:c.183C=	NP_001258597.1:p.Ser61=
NM_001271669.2:c.129C=	NP_001258598.1:p.Ser43=
NR_036448.3:n.532C=