Canonical Allele Identifier: CA362869087

Gene: DTNBP1

Linked Data

• dbSNP Id: rs768475925
• gnomAD v3: 6-15627461-C-A
• gnomAD v4: 6-15627461-C-A
• MyVariant Identifiers: chr6:g.15627692C>A (hg19) ; chr6:g.15627461C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.15627461C>A , CM000668.2:g.15627461C>A	GRCh38
NC_000006.11:g.15627692C>A , CM000668.1:g.15627692C>A	GRCh37
NC_000006.10:g.15735671C>A	NCBI36
NG_009309.1:g.40580G>T , LRG_588:g.40580G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344537.10:c.237G>T MANE Select	ENSP00000341680.6:p.Glu79Asp
ENST00000338950.9:c.237G>T	ENSP00000344718.5:p.Glu79Asp
ENST00000344537.9:c.237G>T	ENSP00000341680.5:p.Glu79Asp
ENST00000355917.7:c.186G>T	ENSP00000348183.4:p.Glu62Asp
ENST00000506844.1:c.*235G>T	ENSP00000424202.1:n.*235G>T
ENST00000510395.5:c.*147G>T	ENSP00000424685.1:n.*147G>T
ENST00000511762.2:c.132G>T	ENSP00000427473.2:p.Glu44Asp
ENST00000513680.5:c.*235G>T	ENSP00000424357.1:n.*235G>T
ENST00000515875.5:c.186G>T	ENSP00000425495.1:p.Glu62Asp
ENST00000622898.4:c.132G>T	ENSP00000481997.1:p.Glu44Asp
NM_001271667.1:c.-7G>T	NP_001258596.1:n.-7G>T
NM_001271668.1:c.186G>T	NP_001258597.1:p.Glu62Asp
NM_001271669.1:c.132G>T	NP_001258598.1:p.Glu44Asp
NM_032122.4:c.237G>T , LRG_588t1:c.237G>T	NP_115498.2:p.Glu79Asp
NM_183040.2:c.237G>T , LRG_588t2:c.237G>T	NP_898861.1:p.Glu79Asp
NR_036448.1:n.565G>T
XM_005249447.3:c.198G>T	XP_005249504.1:p.Glu66Asp
XM_011514936.1:c.147G>T	XP_011513238.1:p.Glu49Asp
XM_005249447.4:c.198G>T	XP_005249504.1:p.Glu66Asp
XM_011514936.3:c.147G>T	XP_011513238.1:p.Glu49Asp
NM_032122.5:c.237G>T MANE Select	NP_115498.2:p.Glu79Asp
NR_036448.2:n.535G>T
NM_001271667.2:c.-7G>T	NP_001258596.1:n.-7G>T
NM_001271668.2:c.186G>T	NP_001258597.1:p.Glu62Asp
NM_001271669.2:c.132G>T	NP_001258598.1:p.Glu44Asp
NR_036448.3:n.535G>T