Canonical Allele Identifier: CA1612390340
Gene: DTNBP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.15656607G= , CM000668.2:g.15656607G= GRCh38
NC_000006.11:g.15656838G= , CM000668.1:g.15656838G= GRCh37
NC_000006.10:g.15764817G= NCBI36
NG_009309.1:g.11434C= , LRG_588:g.11434C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000344537.10:c.57-4467C= MANE Select ENSP00000341680.6:n.57-4467C=
ENST00000338950.9:c.57-4467C= ENSP00000344718.5:n.57-4467C=
ENST00000344537.9:c.57-4467C= ENSP00000341680.5:n.57-4467C=
ENST00000355917.7:c.57-4467C= ENSP00000348183.4:n.57-4467C=
ENST00000506844.1:c.*54+3776C= ENSP00000424202.1:n.*54+3776C=
ENST00000510395.5:c.57-4467C= ENSP00000424685.1:n.57-4467C=
ENST00000511762.2:c.56+6207C= ENSP00000427473.2:n.56+6207C=
ENST00000513680.5:c.*54+3776C= ENSP00000424357.1:n.*54+3776C=
ENST00000515875.5:c.57-4467C= ENSP00000425495.1:n.57-4467C=
ENST00000622898.4:c.56+6207C= ENSP00000481997.1:n.56+6207C=
NM_001271667.1:c.-232-4467C= NP_001258596.1:n.-232-4467C=
NM_001271668.1:c.57-4467C= NP_001258597.1:n.57-4467C=
NM_001271669.1:c.56+6207C= NP_001258598.1:n.56+6207C=
NM_032122.4:c.57-4467C= , LRG_588t1:c.57-4467C= NP_115498.2:n.57-4467C=
NM_183040.2:c.57-4467C= , LRG_588t2:c.57-4467C= NP_898861.1:n.57-4467C=
NR_036448.1:n.384+3776C=
XM_005249447.3:c.17+3776C= XP_005249504.1:n.17+3776C=
XM_011514936.1:c.17+3776C= XP_011513238.1:n.17+3776C=
XM_005249447.4:c.17+3776C= XP_005249504.1:n.17+3776C=
XM_011514936.3:c.17+3776C= XP_011513238.1:n.17+3776C=
NM_032122.5:c.57-4467C= MANE Select NP_115498.2:n.57-4467C=
NR_036448.2:n.354+3776C=
NM_001271667.2:c.-232-4467C= NP_001258596.1:n.-232-4467C=
NM_001271668.2:c.57-4467C= NP_001258597.1:n.57-4467C=
NM_001271669.2:c.56+6207C= NP_001258598.1:n.56+6207C=
NR_036448.3:n.354+3776C=