Canonical Allele Identifier: CA1612384622
Gene: DTNBP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.15627425C= , CM000668.2:g.15627425C= GRCh38
NC_000006.11:g.15627656C= , CM000668.1:g.15627656C= GRCh37
NC_000006.10:g.15735635C= NCBI36
NG_009309.1:g.40616G= , LRG_588:g.40616G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000344537.10:c.273G= MANE Select ENSP00000341680.6:p.Lys91=
ENST00000338950.9:c.273G= ENSP00000344718.5:p.Lys91=
ENST00000344537.9:c.273G= ENSP00000341680.5:p.Lys91=
ENST00000355917.7:c.222G= ENSP00000348183.4:p.Lys74=
ENST00000506844.1:c.*271G= ENSP00000424202.1:n.*271G=
ENST00000510395.5:c.*183G= ENSP00000424685.1:n.*183G=
ENST00000511762.2:c.168G= ENSP00000427473.2:p.Lys56=
ENST00000513680.5:c.*271G= ENSP00000424357.1:n.*271G=
ENST00000515875.5:c.222G= ENSP00000425495.1:p.Lys74=
ENST00000622898.4:c.168G= ENSP00000481997.1:p.Lys56=
NM_001271667.1:c.30G= NP_001258596.1:p.Lys10=
NM_001271668.1:c.222G= NP_001258597.1:p.Lys74=
NM_001271669.1:c.168G= NP_001258598.1:p.Lys56=
NM_032122.4:c.273G= , LRG_588t1:c.273G= NP_115498.2:p.Lys91=
NM_183040.2:c.273G= , LRG_588t2:c.273G= NP_898861.1:p.Lys91=
NR_036448.1:n.601G=
XM_005249447.3:c.234G= XP_005249504.1:p.Lys78=
XM_011514936.1:c.183G= XP_011513238.1:p.Lys61=
XM_005249447.4:c.234G= XP_005249504.1:p.Lys78=
XM_011514936.3:c.183G= XP_011513238.1:p.Lys61=
NM_032122.5:c.273G= MANE Select NP_115498.2:p.Lys91=
NR_036448.2:n.571G=
NM_001271667.2:c.30G= NP_001258596.1:p.Lys10=
NM_001271668.2:c.222G= NP_001258597.1:p.Lys74=
NM_001271669.2:c.168G= NP_001258598.1:p.Lys56=
NR_036448.3:n.571G=