Canonical Allele Identifier: CA273065
Gene: DTNBP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 162098
dbSNP Id: rs727502866

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.15637789C>T , CM000668.2:g.15637789C>T GRCh38
NC_000006.11:g.15638020C>T , CM000668.1:g.15638020C>T GRCh37
NC_000006.10:g.15745999C>T NCBI36
NG_009309.1:g.30252G>A , LRG_588:g.30252G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000344537.10:c.177G>A MANE Select ENSP00000341680.6:p.Trp59Ter
ENST00000338950.9:c.177G>A ENSP00000344718.5:p.Trp59Ter
ENST00000344537.9:c.177G>A ENSP00000341680.5:p.Trp59Ter
ENST00000355917.7:c.126G>A ENSP00000348183.4:p.Trp42Ter
ENST00000506844.1:c.*175G>A ENSP00000424202.1:p.=
ENST00000510395.5:c.*87G>A ENSP00000424685.1:p.=
ENST00000511762.2:c.72G>A ENSP00000427473.2:p.Trp24Ter
ENST00000513680.5:c.*175G>A ENSP00000424357.1:p.=
ENST00000515875.5:c.126G>A ENSP00000425495.1:p.Trp42Ter
ENST00000622898.4:c.72G>A ENSP00000481997.1:p.Trp24Ter
NM_001271667.1:c.-67G>A NP_001258596.1:p.=
NM_001271668.1:c.126G>A NP_001258597.1:p.Trp42Ter
NM_001271669.1:c.72G>A NP_001258598.1:p.Trp24Ter
NM_032122.4:c.177G>A , LRG_588t1:c.177G>A NP_115498.2:p.Trp59Ter
NM_183040.2:c.177G>A , LRG_588t2:c.177G>A NP_898861.1:p.Trp59Ter
NR_036448.1:n.505G>A
XM_005249447.3:c.138G>A XP_005249504.1:p.Trp46Ter
XM_011514936.1:c.87G>A XP_011513238.1:p.Trp29Ter
XM_005249447.4:c.138G>A XP_005249504.1:p.Trp46Ter
XM_011514936.3:c.87G>A XP_011513238.1:p.Trp29Ter
NM_032122.5:c.177G>A MANE Select NP_115498.2:p.Trp59Ter
NR_036448.2:n.475G>A
NM_001271667.2:c.-67G>A NP_001258596.1:p.=
NM_001271668.2:c.126G>A NP_001258597.1:p.Trp42Ter
NM_001271669.2:c.72G>A NP_001258598.1:p.Trp24Ter
NR_036448.3:n.475G>A