Canonical Allele Identifier: CA2512711737

Gene: DTNBP1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.15656796G>C , CM000668.2:g.15656796G>C	GRCh38
NC_000006.11:g.15657027G>C , CM000668.1:g.15657027G>C	GRCh37
NC_000006.10:g.15765006G>C	NCBI36
NG_009309.1:g.11245C>G , LRG_588:g.11245C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344537.10:c.57-4656C>G MANE Select	ENSP00000341680.6:n.57-4656C>G
ENST00000338950.9:c.57-4656C>G	ENSP00000344718.5:n.57-4656C>G
ENST00000344537.9:c.57-4656C>G	ENSP00000341680.5:n.57-4656C>G
ENST00000355917.7:c.57-4656C>G	ENSP00000348183.4:n.57-4656C>G
ENST00000506844.1:c.*54+3587C>G	ENSP00000424202.1:n.*54+3587C>G
ENST00000510395.5:c.57-4656C>G	ENSP00000424685.1:n.57-4656C>G
ENST00000511762.2:c.56+6018C>G	ENSP00000427473.2:n.56+6018C>G
ENST00000513680.5:c.*54+3587C>G	ENSP00000424357.1:n.*54+3587C>G
ENST00000515875.5:c.57-4656C>G	ENSP00000425495.1:n.57-4656C>G
ENST00000622898.4:c.56+6018C>G	ENSP00000481997.1:n.56+6018C>G
NM_001271667.1:c.-232-4656C>G	NP_001258596.1:n.-232-4656C>G
NM_001271668.1:c.57-4656C>G	NP_001258597.1:n.57-4656C>G
NM_001271669.1:c.56+6018C>G	NP_001258598.1:n.56+6018C>G
NM_032122.4:c.57-4656C>G , LRG_588t1:c.57-4656C>G	NP_115498.2:n.57-4656C>G
NM_183040.2:c.57-4656C>G , LRG_588t2:c.57-4656C>G	NP_898861.1:n.57-4656C>G
NR_036448.1:n.384+3587C>G
XM_005249447.3:c.17+3587C>G	XP_005249504.1:n.17+3587C>G
XM_011514936.1:c.17+3587C>G	XP_011513238.1:n.17+3587C>G
XM_005249447.4:c.17+3587C>G	XP_005249504.1:n.17+3587C>G
XM_011514936.3:c.17+3587C>G	XP_011513238.1:n.17+3587C>G
NM_032122.5:c.57-4656C>G MANE Select	NP_115498.2:n.57-4656C>G
NR_036448.2:n.354+3587C>G
NM_001271667.2:c.-232-4656C>G	NP_001258596.1:n.-232-4656C>G
NM_001271668.2:c.57-4656C>G	NP_001258597.1:n.57-4656C>G
NM_001271669.2:c.56+6018C>G	NP_001258598.1:n.56+6018C>G
NR_036448.3:n.354+3587C>G