Canonical Allele Identifier: CA12225905
Gene: DTNBP1 HGNC NCBI

Linked Data

dbSNP Id: rs742105

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.15572843C>T , CM000668.2:g.15572843C>T GRCh38
NC_000006.11:g.15573074C>T , CM000668.1:g.15573074C>T GRCh37
NC_000006.10:g.15681053C>T NCBI36
NG_009309.1:g.95198G>A , LRG_588:g.95198G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000344537.10:c.511+20216G>A MANE Select ENSP00000341680.6:p.=
ENST00000338950.9:c.511+20216G>A ENSP00000344718.5:p.=
ENST00000344537.9:c.511+20216G>A ENSP00000341680.5:p.=
ENST00000355917.7:c.460+20216G>A ENSP00000348183.4:p.=
ENST00000462989.6:c.43+12876G>A ENSP00000427239.1:p.=
ENST00000506844.1:c.*509+20216G>A ENSP00000424202.1:p.=
ENST00000510395.5:c.*421+20216G>A ENSP00000424685.1:p.=
ENST00000511762.2:c.406+20216G>A ENSP00000427473.2:p.=
ENST00000513680.5:c.*509+20216G>A ENSP00000424357.1:p.=
ENST00000515875.5:c.460+20216G>A ENSP00000425495.1:p.=
ENST00000622898.4:c.406+20216G>A ENSP00000481997.1:p.=
NM_001271667.1:c.268+20216G>A NP_001258596.1:p.=
NM_001271668.1:c.460+20216G>A NP_001258597.1:p.=
NM_001271669.1:c.406+20216G>A NP_001258598.1:p.=
NM_032122.4:c.511+20216G>A , LRG_588t1:c.511+20216G>A NP_115498.2:p.=
NM_183040.2:c.511+20216G>A , LRG_588t2:c.511+20216G>A NP_898861.1:p.=
NR_036448.1:n.839+20216G>A
XM_005249447.3:c.472+20216G>A XP_005249504.1:p.=
XM_011514936.1:c.421+20216G>A XP_011513238.1:p.=
XM_011514937.1:c.43+12876G>A XP_011513239.1:p.=
XM_005249447.4:c.472+20216G>A XP_005249504.1:p.=
XM_011514936.3:c.421+20216G>A XP_011513238.1:p.=
XM_011514937.2:c.43+12876G>A XP_011513239.1:p.=
NM_032122.5:c.511+20216G>A MANE Select NP_115498.2:p.=
NR_036448.2:n.809+20216G>A
NM_001271667.2:c.268+20216G>A NP_001258596.1:p.=
NM_001271668.2:c.460+20216G>A NP_001258597.1:p.=
NM_001271669.2:c.406+20216G>A NP_001258598.1:p.=
NR_036448.3:n.809+20216G>A