Canonical Allele Identifier: CA3643713

Gene: DTNBP1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.15523182G>A , CM000668.2:g.15523182G>A	GRCh38
NC_000006.11:g.15523413G>A , CM000668.1:g.15523413G>A	GRCh37
NC_000006.10:g.15631392G>A	NCBI36
NG_009309.1:g.144859C>T , LRG_588:g.144859C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344537.10:c.849C>T MANE Select	ENSP00000341680.6:p.Leu283=
ENST00000344537.9:c.849C>T	ENSP00000341680.5:p.Leu283=
ENST00000355917.7:c.798C>T	ENSP00000348183.4:p.Leu266=
ENST00000462989.6:c.381C>T	ENSP00000427239.1:p.Leu127=
ENST00000509674.1:c.300C>T	ENSP00000421797.1:p.Leu100=
ENST00000510395.5:c.*759C>T	ENSP00000424685.1:n.*759C>T
ENST00000513680.5:c.*849C>T	ENSP00000424357.1:n.*849C>T
ENST00000515875.5:c.*173C>T	ENSP00000425495.1:n.*173C>T
ENST00000622898.4:c.744C>T	ENSP00000481997.1:p.Leu248=
NM_001271667.1:c.606C>T	NP_001258596.1:p.Leu202=
NM_001271668.1:c.798C>T	NP_001258597.1:p.Leu266=
NM_001271669.1:c.744C>T	NP_001258598.1:p.Leu248=
NM_032122.4:c.849C>T , LRG_588t1:c.849C>T	NP_115498.2:p.Leu283=
XM_005249447.3:c.810C>T	XP_005249504.1:p.Leu270=
XM_011514936.1:c.759C>T	XP_011513238.1:p.Leu253=
XM_011514937.1:c.381C>T	XP_011513239.1:p.Leu127=
XM_005249447.4:c.810C>T	XP_005249504.1:p.Leu270=
XM_011514936.3:c.759C>T	XP_011513238.1:p.Leu253=
XM_011514937.2:c.381C>T	XP_011513239.1:p.Leu127=
XM_017011348.1:c.399C>T	XP_016866837.1:p.Leu133=
XM_017011349.1:c.396C>T	XP_016866838.1:p.Leu132=
XM_024446567.1:c.450C>T	XP_024302335.1:p.Leu150=
NM_032122.5:c.849C>T MANE Select	NP_115498.2:p.Leu283=
NM_001271667.2:c.606C>T	NP_001258596.1:p.Leu202=
NM_001271668.2:c.798C>T	NP_001258597.1:p.Leu266=
NM_001271669.2:c.744C>T	NP_001258598.1:p.Leu248=