Canonical Allele Identifier: CA1612384637

Gene: DTNBP1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.15627463C= , CM000668.2:g.15627463C=	GRCh38
NC_000006.11:g.15627694C= , CM000668.1:g.15627694C=	GRCh37
NC_000006.10:g.15735673C=	NCBI36
NG_009309.1:g.40578G= , LRG_588:g.40578G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344537.10:c.235G= MANE Select	ENSP00000341680.6:p.Glu79=
ENST00000338950.9:c.235G=	ENSP00000344718.5:p.Glu79=
ENST00000344537.9:c.235G=	ENSP00000341680.5:p.Glu79=
ENST00000355917.7:c.184G=	ENSP00000348183.4:p.Glu62=
ENST00000506844.1:c.*233G=	ENSP00000424202.1:n.*233G=
ENST00000510395.5:c.*145G=	ENSP00000424685.1:n.*145G=
ENST00000511762.2:c.130G=	ENSP00000427473.2:p.Glu44=
ENST00000513680.5:c.*233G=	ENSP00000424357.1:n.*233G=
ENST00000515875.5:c.184G=	ENSP00000425495.1:p.Glu62=
ENST00000622898.4:c.130G=	ENSP00000481997.1:p.Glu44=
NM_001271667.1:c.-9G=	NP_001258596.1:n.-9G=
NM_001271668.1:c.184G=	NP_001258597.1:p.Glu62=
NM_001271669.1:c.130G=	NP_001258598.1:p.Glu44=
NM_032122.4:c.235G= , LRG_588t1:c.235G=	NP_115498.2:p.Glu79=
NM_183040.2:c.235G= , LRG_588t2:c.235G=	NP_898861.1:p.Glu79=
NR_036448.1:n.563G=
XM_005249447.3:c.196G=	XP_005249504.1:p.Glu66=
XM_011514936.1:c.145G=	XP_011513238.1:p.Glu49=
XM_005249447.4:c.196G=	XP_005249504.1:p.Glu66=
XM_011514936.3:c.145G=	XP_011513238.1:p.Glu49=
NM_032122.5:c.235G= MANE Select	NP_115498.2:p.Glu79=
NR_036448.2:n.533G=
NM_001271667.2:c.-9G=	NP_001258596.1:n.-9G=
NM_001271668.2:c.184G=	NP_001258597.1:p.Glu62=
NM_001271669.2:c.130G=	NP_001258598.1:p.Glu44=
NR_036448.3:n.533G=