Canonical Allele Identifier: CA1612381772
Community Standard Title: NM_032122.5(DTNBP1):c.356-5225G=
Gene: DTNBP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.15620624C= , CM000668.2:g.15620624C= GRCh38
NC_000006.11:g.15620855C= , CM000668.1:g.15620855C= GRCh37
NC_000006.10:g.15728834C= NCBI36
NG_009309.1:g.47417G= , LRG_588:g.47417G=

Transcript Alleles

HGVS Amino-acid Change
NM_032122.5:c.356-5225G= MANE Select NP_115498.2:n.356-5225G=
ENST00000344537.10:c.356-5225G= MANE Select ENSP00000341680.6:n.356-5225G=
NM_001271667.1:c.113-5225G= NP_001258596.1:n.113-5225G=
NM_001271667.2:c.113-5225G= NP_001258596.1:n.113-5225G=
NM_001271668.1:c.305-5225G= NP_001258597.1:n.305-5225G=
NM_001271668.2:c.305-5225G= NP_001258597.1:n.305-5225G=
NM_001271669.1:c.251-5225G= NP_001258598.1:n.251-5225G=
NM_001271669.2:c.251-5225G= NP_001258598.1:n.251-5225G=
NM_032122.4:c.356-5225G= , LRG_588t1:c.356-5225G= NP_115498.2:n.356-5225G=
NM_183040.2:c.356-5225G= , LRG_588t2:c.356-5225G= NP_898861.1:n.356-5225G=
NR_036448.1:n.684-5225G=
NR_036448.2:n.654-5225G=
NR_036448.3:n.654-5225G=
ENST00000338950.9:c.356-5225G= ENSP00000344718.5:n.356-5225G=
ENST00000344537.9:c.356-5225G= ENSP00000341680.5:n.356-5225G=
ENST00000355917.7:c.305-5225G= ENSP00000348183.4:n.305-5225G=
ENST00000506844.1:c.*354-5225G= ENSP00000424202.1:n.*354-5225G=
ENST00000510395.5:c.*266-5225G= ENSP00000424685.1:n.*266-5225G=
ENST00000511762.2:c.251-5225G= ENSP00000427473.2:n.251-5225G=
ENST00000513680.5:c.*354-5225G= ENSP00000424357.1:n.*354-5225G=
ENST00000515875.5:c.305-5225G= ENSP00000425495.1:n.305-5225G=
ENST00000622898.4:c.251-5225G= ENSP00000481997.1:n.251-5225G=
XM_005249447.3:c.317-5225G= XP_005249504.1:n.317-5225G=
XM_005249447.4:c.317-5225G= XP_005249504.1:n.317-5225G=
XM_011514936.1:c.266-5225G= XP_011513238.1:n.266-5225G=
XM_011514936.3:c.266-5225G= XP_011513238.1:n.266-5225G=