Canonical Allele Identifier: CA1612389063
Gene: DTNBP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.15653418A>G , CM000668.2:g.15653418A>G GRCh38
NC_000006.11:g.15653649A>G , CM000668.1:g.15653649A>G GRCh37
NC_000006.10:g.15761628A>G NCBI36
NG_009309.1:g.14623T>C , LRG_588:g.14623T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000344537.10:c.57-1278T>C MANE Select ENSP00000341680.6:n.57-1278T>C
ENST00000338950.9:c.57-1278T>C ENSP00000344718.5:n.57-1278T>C
ENST00000344537.9:c.57-1278T>C ENSP00000341680.5:n.57-1278T>C
ENST00000355917.7:c.57-1278T>C ENSP00000348183.4:n.57-1278T>C
ENST00000506844.1:c.*55-1278T>C ENSP00000424202.1:n.*55-1278T>C
ENST00000510395.5:c.57-1278T>C ENSP00000424685.1:n.57-1278T>C
ENST00000511762.2:c.56+9396T>C ENSP00000427473.2:n.56+9396T>C
ENST00000513680.5:c.*55-1278T>C ENSP00000424357.1:n.*55-1278T>C
ENST00000515875.5:c.57-1278T>C ENSP00000425495.1:n.57-1278T>C
ENST00000622898.4:c.56+9396T>C ENSP00000481997.1:n.56+9396T>C
NM_001271667.1:c.-232-1278T>C NP_001258596.1:n.-232-1278T>C
NM_001271668.1:c.57-1278T>C NP_001258597.1:n.57-1278T>C
NM_001271669.1:c.56+9396T>C NP_001258598.1:n.56+9396T>C
NM_032122.4:c.57-1278T>C , LRG_588t1:c.57-1278T>C NP_115498.2:n.57-1278T>C
NM_183040.2:c.57-1278T>C , LRG_588t2:c.57-1278T>C NP_898861.1:n.57-1278T>C
NR_036448.1:n.385-1278T>C
XM_005249447.3:c.18-1278T>C XP_005249504.1:n.18-1278T>C
XM_011514936.1:c.18-1278T>C XP_011513238.1:n.18-1278T>C
XM_005249447.4:c.18-1278T>C XP_005249504.1:n.18-1278T>C
XM_011514936.3:c.18-1278T>C XP_011513238.1:n.18-1278T>C
NM_032122.5:c.57-1278T>C MANE Select NP_115498.2:n.57-1278T>C
NR_036448.2:n.355-1278T>C
NM_001271667.2:c.-232-1278T>C NP_001258596.1:n.-232-1278T>C
NM_001271668.2:c.57-1278T>C NP_001258597.1:n.57-1278T>C
NM_001271669.2:c.56+9396T>C NP_001258598.1:n.56+9396T>C
NR_036448.3:n.355-1278T>C