Canonical Allele Identifier: CA3643847

Gene: DTNBP1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.15524368A>G , CM000668.2:g.15524368A>G	GRCh38
NC_000006.11:g.15524599A>G , CM000668.1:g.15524599A>G	GRCh37
NC_000006.10:g.15632578A>G	NCBI36
NG_009309.1:g.143673T>C , LRG_588:g.143673T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_032122.5:c.811+158T>C MANE Select	NP_115498.2:n.811+158T>C
ENST00000344537.10:c.811+158T>C MANE Select	ENSP00000341680.6:n.811+158T>C
NM_001271667.1:c.568+158T>C	NP_001258596.1:n.568+158T>C
NM_001271667.2:c.568+158T>C	NP_001258596.1:n.568+158T>C
NM_001271668.1:c.760+158T>C	NP_001258597.1:n.760+158T>C
NM_001271668.2:c.760+158T>C	NP_001258597.1:n.760+158T>C
NM_001271669.1:c.706+158T>C	NP_001258598.1:n.706+158T>C
NM_001271669.2:c.706+158T>C	NP_001258598.1:n.706+158T>C
NM_032122.4:c.811+158T>C , LRG_588t1:c.811+158T>C	NP_115498.2:n.811+158T>C
NM_183040.2:c.*57T>C , LRG_588t2:c.*57T>C	NP_898861.1:n.*57T>C
NR_036448.1:n.1297T>C
NR_036448.2:n.1267T>C
NR_036448.3:n.1267T>C
ENST00000338950.9:c.*57T>C	ENSP00000344718.5:n.*57T>C
ENST00000344537.9:c.811+158T>C	ENSP00000341680.5:n.811+158T>C
ENST00000355917.7:c.760+158T>C	ENSP00000348183.4:n.760+158T>C
ENST00000462989.6:c.343+158T>C	ENSP00000427239.1:n.343+158T>C
ENST00000506844.1:c.*967T>C	ENSP00000424202.1:n.*967T>C
ENST00000509674.1:c.262+158T>C	ENSP00000421797.1:n.262+158T>C
ENST00000510395.5:c.*721+158T>C	ENSP00000424685.1:n.*721+158T>C
ENST00000513680.5:c.*811+158T>C	ENSP00000424357.1:n.*811+158T>C
ENST00000514651.1:n.610T>C
ENST00000515875.5:c.*135+158T>C	ENSP00000425495.1:n.*135+158T>C
ENST00000622898.4:c.706+158T>C	ENSP00000481997.1:n.706+158T>C
XM_005249447.3:c.772+158T>C	XP_005249504.1:n.772+158T>C
XM_005249447.4:c.772+158T>C	XP_005249504.1:n.772+158T>C
XM_011514936.1:c.721+158T>C	XP_011513238.1:n.721+158T>C
XM_011514936.3:c.721+158T>C	XP_011513238.1:n.721+158T>C
XM_011514937.1:c.343+158T>C	XP_011513239.1:n.343+158T>C
XM_011514937.2:c.343+158T>C	XP_011513239.1:n.343+158T>C
XM_017011348.1:c.361+158T>C	XP_016866837.1:n.361+158T>C
XM_017011349.1:c.358+158T>C	XP_016866838.1:n.358+158T>C
XM_024446567.1:c.412+158T>C	XP_024302335.1:n.412+158T>C