Canonical Allele Identifier: CA12225919
Gene: DTNBP1 HGNC NCBI

Linked Data

dbSNP Id: rs6459409

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.15636622T>C , CM000668.2:g.15636622T>C GRCh38
NC_000006.11:g.15636853T>C , CM000668.1:g.15636853T>C GRCh37
NC_000006.10:g.15744832T>C NCBI36
NG_009309.1:g.31419A>G , LRG_588:g.31419A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000344537.10:c.222+1122A>G MANE Select ENSP00000341680.6:p.=
ENST00000338950.9:c.222+1122A>G ENSP00000344718.5:p.=
ENST00000344537.9:c.222+1122A>G ENSP00000341680.5:p.=
ENST00000355917.7:c.171+1122A>G ENSP00000348183.4:p.=
ENST00000506844.1:c.*220+1122A>G ENSP00000424202.1:p.=
ENST00000510395.5:c.*132+1122A>G ENSP00000424685.1:p.=
ENST00000511762.2:c.117+1122A>G ENSP00000427473.2:p.=
ENST00000513680.5:c.*220+1122A>G ENSP00000424357.1:p.=
ENST00000515875.5:c.171+1122A>G ENSP00000425495.1:p.=
ENST00000622898.4:c.117+1122A>G ENSP00000481997.1:p.=
NM_001271667.1:c.-22+1122A>G NP_001258596.1:p.=
NM_001271668.1:c.171+1122A>G NP_001258597.1:p.=
NM_001271669.1:c.117+1122A>G NP_001258598.1:p.=
NM_032122.4:c.222+1122A>G , LRG_588t1:c.222+1122A>G NP_115498.2:p.=
NM_183040.2:c.222+1122A>G , LRG_588t2:c.222+1122A>G NP_898861.1:p.=
NR_036448.1:n.550+1122A>G
XM_005249447.3:c.183+1122A>G XP_005249504.1:p.=
XM_011514936.1:c.132+1122A>G XP_011513238.1:p.=
XM_005249447.4:c.183+1122A>G XP_005249504.1:p.=
XM_011514936.3:c.132+1122A>G XP_011513238.1:p.=
NM_032122.5:c.222+1122A>G MANE Select NP_115498.2:p.=
NR_036448.2:n.520+1122A>G
NM_001271667.2:c.-22+1122A>G NP_001258596.1:p.=
NM_001271668.2:c.171+1122A>G NP_001258597.1:p.=
NM_001271669.2:c.117+1122A>G NP_001258598.1:p.=
NR_036448.3:n.520+1122A>G