Canonical Allele Identifier: CA12225893

Gene: DTNBP1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.15533720C>T , CM000668.2:g.15533720C>T	GRCh38
NC_000006.11:g.15533951C>T , CM000668.1:g.15533951C>T	GRCh37
NC_000006.10:g.15641930C>T	NCBI36
NG_009309.1:g.134321G>A , LRG_588:g.134321G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_032122.5:c.512-325G>A MANE Select	NP_115498.2:n.512-325G>A
ENST00000344537.10:c.512-325G>A MANE Select	ENSP00000341680.6:n.512-325G>A
NM_001271667.1:c.269-325G>A	NP_001258596.1:n.269-325G>A
NM_001271667.2:c.269-325G>A	NP_001258596.1:n.269-325G>A
NM_001271668.1:c.461-325G>A	NP_001258597.1:n.461-325G>A
NM_001271668.2:c.461-325G>A	NP_001258597.1:n.461-325G>A
NM_001271669.1:c.407-325G>A	NP_001258598.1:n.407-325G>A
NM_001271669.2:c.407-325G>A	NP_001258598.1:n.407-325G>A
NM_032122.4:c.512-325G>A , LRG_588t1:c.512-325G>A	NP_115498.2:n.512-325G>A
NM_183040.2:c.512-325G>A , LRG_588t2:c.512-325G>A	NP_898861.1:n.512-325G>A
NR_036448.1:n.840-325G>A
NR_036448.2:n.810-325G>A
NR_036448.3:n.810-325G>A
ENST00000338950.9:c.512-325G>A	ENSP00000344718.5:n.512-325G>A
ENST00000344537.9:c.512-325G>A	ENSP00000341680.5:n.512-325G>A
ENST00000355917.7:c.461-325G>A	ENSP00000348183.4:n.461-325G>A
ENST00000462989.6:c.44-325G>A	ENSP00000427239.1:n.44-325G>A
ENST00000506844.1:c.*510-325G>A	ENSP00000424202.1:n.*510-325G>A
ENST00000509674.1:c.-38-325G>A	ENSP00000421797.1:n.-38-325G>A
ENST00000510395.5:c.*422-325G>A	ENSP00000424685.1:n.*422-325G>A
ENST00000511762.2:c.407-325G>A	ENSP00000427473.2:n.407-325G>A
ENST00000513680.5:c.*510-325G>A	ENSP00000424357.1:n.*510-325G>A
ENST00000515875.5:c.461-325G>A	ENSP00000425495.1:n.461-325G>A
ENST00000622898.4:c.407-325G>A	ENSP00000481997.1:n.407-325G>A
XM_005249447.3:c.473-325G>A	XP_005249504.1:n.473-325G>A
XM_005249447.4:c.473-325G>A	XP_005249504.1:n.473-325G>A
XM_011514936.1:c.422-325G>A	XP_011513238.1:n.422-325G>A
XM_011514936.3:c.422-325G>A	XP_011513238.1:n.422-325G>A
XM_011514937.1:c.44-325G>A	XP_011513239.1:n.44-325G>A
XM_011514937.2:c.44-325G>A	XP_011513239.1:n.44-325G>A
XM_017011348.1:c.38G>A	XP_016866837.1:p.Arg13Gln
XM_024446567.1:c.113-325G>A	XP_024302335.1:n.113-325G>A
XR_001743795.1:n.4354-66C>T
XR_926521.1:n.317C>T