Canonical Allele Identifier: CA175978
Community Standard Title: NM_032122.5(DTNBP1):c.811+96G>A
Gene: DTNBP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.15524430C>T , CM000668.2:g.15524430C>T GRCh38
NC_000006.11:g.15524661C>T , CM000668.1:g.15524661C>T GRCh37
NC_000006.10:g.15632640C>T NCBI36
NG_009309.1:g.143611G>A , LRG_588:g.143611G>A

Transcript Alleles

HGVS Amino-acid Change
NM_032122.5:c.811+96G>A MANE Select NP_115498.2:n.811+96G>A
ENST00000344537.10:c.811+96G>A MANE Select ENSP00000341680.6:n.811+96G>A
NM_001271667.1:c.568+96G>A NP_001258596.1:n.568+96G>A
NM_001271667.2:c.568+96G>A NP_001258596.1:n.568+96G>A
NM_001271668.1:c.760+96G>A NP_001258597.1:n.760+96G>A
NM_001271668.2:c.760+96G>A NP_001258597.1:n.760+96G>A
NM_001271669.1:c.706+96G>A NP_001258598.1:n.706+96G>A
NM_001271669.2:c.706+96G>A NP_001258598.1:n.706+96G>A
NM_032122.4:c.811+96G>A , LRG_588t1:c.811+96G>A NP_115498.2:n.811+96G>A
NM_183040.2:c.907G>A , LRG_588t2:c.907G>A NP_898861.1:p.Ala303Thr
NR_036448.1:n.1235G>A
NR_036448.2:n.1205G>A
NR_036448.3:n.1205G>A
ENST00000338950.9:c.907G>A ENSP00000344718.5:p.Ala303Thr
ENST00000344537.9:c.811+96G>A ENSP00000341680.5:n.811+96G>A
ENST00000355917.7:c.760+96G>A ENSP00000348183.4:n.760+96G>A
ENST00000462989.6:c.343+96G>A ENSP00000427239.1:n.343+96G>A
ENST00000506844.1:c.*905G>A ENSP00000424202.1:n.*905G>A
ENST00000509674.1:c.262+96G>A ENSP00000421797.1:n.262+96G>A
ENST00000510395.5:c.*721+96G>A ENSP00000424685.1:n.*721+96G>A
ENST00000513680.5:c.*811+96G>A ENSP00000424357.1:n.*811+96G>A
ENST00000514651.1:n.548G>A
ENST00000515875.5:c.*135+96G>A ENSP00000425495.1:n.*135+96G>A
ENST00000622898.4:c.706+96G>A ENSP00000481997.1:n.706+96G>A
XM_005249447.3:c.772+96G>A XP_005249504.1:n.772+96G>A
XM_005249447.4:c.772+96G>A XP_005249504.1:n.772+96G>A
XM_011514936.1:c.721+96G>A XP_011513238.1:n.721+96G>A
XM_011514936.3:c.721+96G>A XP_011513238.1:n.721+96G>A
XM_011514937.1:c.343+96G>A XP_011513239.1:n.343+96G>A
XM_011514937.2:c.343+96G>A XP_011513239.1:n.343+96G>A
XM_017011348.1:c.361+96G>A XP_016866837.1:n.361+96G>A
XM_017011349.1:c.358+96G>A XP_016866838.1:n.358+96G>A
XM_024446567.1:c.412+96G>A XP_024302335.1:n.412+96G>A