Canonical Allele Identifier: CA821181918
Gene: DTNBP1 HGNC NCBI

Linked Data

dbSNP Id: rs1482703395
gnomAD v3: 6-15573011-T-C
gnomAD v4: 6-15573011-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.15573011T>C , CM000668.2:g.15573011T>C GRCh38
NC_000006.11:g.15573242T>C , CM000668.1:g.15573242T>C GRCh37
NC_000006.10:g.15681221T>C NCBI36
NG_009309.1:g.95030A>G , LRG_588:g.95030A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000344537.10:c.511+20048A>G MANE Select ENSP00000341680.6:n.511+20048A>G
ENST00000338950.9:c.511+20048A>G ENSP00000344718.5:n.511+20048A>G
ENST00000344537.9:c.511+20048A>G ENSP00000341680.5:n.511+20048A>G
ENST00000355917.7:c.460+20048A>G ENSP00000348183.4:n.460+20048A>G
ENST00000462989.6:c.43+12708A>G ENSP00000427239.1:n.43+12708A>G
ENST00000506844.1:c.*509+20048A>G ENSP00000424202.1:n.*509+20048A>G
ENST00000510395.5:c.*421+20048A>G ENSP00000424685.1:n.*421+20048A>G
ENST00000511762.2:c.406+20048A>G ENSP00000427473.2:n.406+20048A>G
ENST00000513680.5:c.*509+20048A>G ENSP00000424357.1:n.*509+20048A>G
ENST00000515875.5:c.460+20048A>G ENSP00000425495.1:n.460+20048A>G
ENST00000622898.4:c.406+20048A>G ENSP00000481997.1:n.406+20048A>G
NM_001271667.1:c.268+20048A>G NP_001258596.1:n.268+20048A>G
NM_001271668.1:c.460+20048A>G NP_001258597.1:n.460+20048A>G
NM_001271669.1:c.406+20048A>G NP_001258598.1:n.406+20048A>G
NM_032122.4:c.511+20048A>G , LRG_588t1:c.511+20048A>G NP_115498.2:n.511+20048A>G
NM_183040.2:c.511+20048A>G , LRG_588t2:c.511+20048A>G NP_898861.1:n.511+20048A>G
NR_036448.1:n.839+20048A>G
XM_005249447.3:c.472+20048A>G XP_005249504.1:n.472+20048A>G
XM_011514936.1:c.421+20048A>G XP_011513238.1:n.421+20048A>G
XM_011514937.1:c.43+12708A>G XP_011513239.1:n.43+12708A>G
XM_005249447.4:c.472+20048A>G XP_005249504.1:n.472+20048A>G
XM_011514936.3:c.421+20048A>G XP_011513238.1:n.421+20048A>G
XM_011514937.2:c.43+12708A>G XP_011513239.1:n.43+12708A>G
NM_032122.5:c.511+20048A>G MANE Select NP_115498.2:n.511+20048A>G
NR_036448.2:n.809+20048A>G
NM_001271667.2:c.268+20048A>G NP_001258596.1:n.268+20048A>G
NM_001271668.2:c.460+20048A>G NP_001258597.1:n.460+20048A>G
NM_001271669.2:c.406+20048A>G NP_001258598.1:n.406+20048A>G
NR_036448.3:n.809+20048A>G