Canonical Allele Identifier: CA362869050

Gene: DTNBP1

Linked Data

• MyVariant Identifiers: chr6:g.15627675G>T (hg19) ; chr6:g.15627444G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.15627444G>T , CM000668.2:g.15627444G>T	GRCh38
NC_000006.11:g.15627675G>T , CM000668.1:g.15627675G>T	GRCh37
NC_000006.10:g.15735654G>T	NCBI36
NG_009309.1:g.40597C>A , LRG_588:g.40597C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344537.10:c.254C>A MANE Select	ENSP00000341680.6:p.Ala85Glu
ENST00000338950.9:c.254C>A	ENSP00000344718.5:p.Ala85Glu
ENST00000344537.9:c.254C>A	ENSP00000341680.5:p.Ala85Glu
ENST00000355917.7:c.203C>A	ENSP00000348183.4:p.Ala68Glu
ENST00000506844.1:c.*252C>A	ENSP00000424202.1:n.*252C>A
ENST00000510395.5:c.*164C>A	ENSP00000424685.1:n.*164C>A
ENST00000511762.2:c.149C>A	ENSP00000427473.2:p.Ala50Glu
ENST00000513680.5:c.*252C>A	ENSP00000424357.1:n.*252C>A
ENST00000515875.5:c.203C>A	ENSP00000425495.1:p.Ala68Glu
ENST00000622898.4:c.149C>A	ENSP00000481997.1:p.Ala50Glu
NM_001271667.1:c.11C>A	NP_001258596.1:p.Ala4Glu
NM_001271668.1:c.203C>A	NP_001258597.1:p.Ala68Glu
NM_001271669.1:c.149C>A	NP_001258598.1:p.Ala50Glu
NM_032122.4:c.254C>A , LRG_588t1:c.254C>A	NP_115498.2:p.Ala85Glu
NM_183040.2:c.254C>A , LRG_588t2:c.254C>A	NP_898861.1:p.Ala85Glu
NR_036448.1:n.582C>A
XM_005249447.3:c.215C>A	XP_005249504.1:p.Ala72Glu
XM_011514936.1:c.164C>A	XP_011513238.1:p.Ala55Glu
XM_005249447.4:c.215C>A	XP_005249504.1:p.Ala72Glu
XM_011514936.3:c.164C>A	XP_011513238.1:p.Ala55Glu
NM_032122.5:c.254C>A MANE Select	NP_115498.2:p.Ala85Glu
NR_036448.2:n.552C>A
NM_001271667.2:c.11C>A	NP_001258596.1:p.Ala4Glu
NM_001271668.2:c.203C>A	NP_001258597.1:p.Ala68Glu
NM_001271669.2:c.149C>A	NP_001258598.1:p.Ala50Glu
NR_036448.3:n.552C>A