Canonical Allele Identifier: CA3644178

Gene: DTNBP1

Linked Data

• ClinVar Variation Id: 1518162
• ClinVar RCV Id: RCV002041289
• dbSNP Id: rs144660230
• ExAC: 6:15627646 C / T
• gnomAD v2: 6-15627646-C-T
• gnomAD v3: 6-15627415-C-T
• gnomAD v4: 6-15627415-C-T
• COSMIC: COSM379369
• MyVariant Identifiers: chr6:g.15627646C>T (hg19) ; chr6:g.15627415C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.15627415C>T , CM000668.2:g.15627415C>T	GRCh38
NC_000006.11:g.15627646C>T , CM000668.1:g.15627646C>T	GRCh37
NC_000006.10:g.15735625C>T	NCBI36
NG_009309.1:g.40626G>A , LRG_588:g.40626G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344537.10:c.283G>A MANE Select	ENSP00000341680.6:p.Val95Met
ENST00000338950.9:c.283G>A	ENSP00000344718.5:p.Val95Met
ENST00000344537.9:c.283G>A	ENSP00000341680.5:p.Val95Met
ENST00000355917.7:c.232G>A	ENSP00000348183.4:p.Val78Met
ENST00000506844.1:c.*281G>A	ENSP00000424202.1:n.*281G>A
ENST00000510395.5:c.*193G>A	ENSP00000424685.1:n.*193G>A
ENST00000511762.2:c.178G>A	ENSP00000427473.2:p.Val60Met
ENST00000513680.5:c.*281G>A	ENSP00000424357.1:n.*281G>A
ENST00000515875.5:c.232G>A	ENSP00000425495.1:p.Val78Met
ENST00000622898.4:c.178G>A	ENSP00000481997.1:p.Val60Met
NM_001271667.1:c.40G>A	NP_001258596.1:p.Val14Met
NM_001271668.1:c.232G>A	NP_001258597.1:p.Val78Met
NM_001271669.1:c.178G>A	NP_001258598.1:p.Val60Met
NM_032122.4:c.283G>A , LRG_588t1:c.283G>A	NP_115498.2:p.Val95Met
NM_183040.2:c.283G>A , LRG_588t2:c.283G>A	NP_898861.1:p.Val95Met
NR_036448.1:n.611G>A
XM_005249447.3:c.244G>A	XP_005249504.1:p.Val82Met
XM_011514936.1:c.193G>A	XP_011513238.1:p.Val65Met
XM_005249447.4:c.244G>A	XP_005249504.1:p.Val82Met
XM_011514936.3:c.193G>A	XP_011513238.1:p.Val65Met
NM_032122.5:c.283G>A MANE Select	NP_115498.2:p.Val95Met
NR_036448.2:n.581G>A
NM_001271667.2:c.40G>A	NP_001258596.1:p.Val14Met
NM_001271668.2:c.232G>A	NP_001258597.1:p.Val78Met
NM_001271669.2:c.178G>A	NP_001258598.1:p.Val60Met
NR_036448.3:n.581G>A