Canonical Allele Identifier: CA12315951
Gene: DTNBP1 HGNC NCBI

Linked Data

dbSNP Id: rs1018381

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.15656839G>A , CM000668.2:g.15656839G>A GRCh38
NC_000006.11:g.15657070G>A , CM000668.1:g.15657070G>A GRCh37
NC_000006.10:g.15765049G>A NCBI36
NG_009309.1:g.11202C>T , LRG_588:g.11202C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000338950.9:c.57-4699C>T ENSP00000344718.5:p.=
ENST00000344537.9:c.57-4699C>T ENSP00000341680.5:p.=
ENST00000355917.7:c.57-4699C>T ENSP00000348183.4:p.=
ENST00000506844.1:c.*54+3544C>T ENSP00000424202.1:p.=
ENST00000510395.5:c.57-4699C>T ENSP00000424685.1:p.=
ENST00000511762.2:c.56+5975C>T ENSP00000427473.2:p.=
ENST00000513680.5:c.*54+3544C>T ENSP00000424357.1:p.=
ENST00000515875.5:c.57-4699C>T ENSP00000425495.1:p.=
ENST00000622898.4:c.56+5975C>T ENSP00000481997.1:p.=
NM_001271667.1:c.-232-4699C>T NP_001258596.1:p.=
NM_001271668.1:c.57-4699C>T NP_001258597.1:p.=
NM_001271669.1:c.56+5975C>T NP_001258598.1:p.=
NM_032122.4:c.57-4699C>T , LRG_588t1:c.57-4699C>T NP_115498.2:p.=
NM_183040.2:c.57-4699C>T , LRG_588t2:c.57-4699C>T NP_898861.1:p.=
XM_005249447.3:c.17+3544C>T XP_005249504.1:p.=
XM_011514936.1:c.17+3544C>T XP_011513238.1:p.=
XM_005249447.4:c.17+3544C>T XP_005249504.1:p.=
XM_011514936.3:c.17+3544C>T XP_011513238.1:p.=
NM_032122.5:c.57-4699C>T MANE Select NP_115498.2:p.=
NM_001271667.2:c.-232-4699C>T NP_001258596.1:p.=
NM_001271668.2:c.57-4699C>T NP_001258597.1:p.=
NM_001271669.2:c.56+5975C>T NP_001258598.1:p.=