Canonical Allele Identifier: CA3643695

Gene: DTNBP1

Linked Data

• ClinVar Variation Id: 1653497
• ClinVar RCV Id: RCV002161165 ; RCV003923805
• dbSNP Id: rs140716378
• ExAC: 6:15523347 C / T
• gnomAD v2: 6-15523347-C-T
• gnomAD v3: 6-15523116-C-T
• gnomAD v4: 6-15523116-C-T
• MyVariant Identifiers: chr6:g.15523347C>T (hg19) ; chr6:g.15523116C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.15523116C>T , CM000668.2:g.15523116C>T	GRCh38
NC_000006.11:g.15523347C>T , CM000668.1:g.15523347C>T	GRCh37
NC_000006.10:g.15631326C>T	NCBI36
NG_009309.1:g.144925G>A , LRG_588:g.144925G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344537.10:c.915G>A MANE Select	ENSP00000341680.6:p.Ser305=
ENST00000344537.9:c.915G>A	ENSP00000341680.5:p.Ser305=
ENST00000355917.7:c.864G>A	ENSP00000348183.4:p.Ser288=
ENST00000462989.6:c.447G>A	ENSP00000427239.1:p.Ser149=
ENST00000509674.1:c.366G>A	ENSP00000421797.1:p.Ser122=
ENST00000510395.5:c.*825G>A	ENSP00000424685.1:n.*825G>A
ENST00000513680.5:c.*915G>A	ENSP00000424357.1:n.*915G>A
ENST00000515875.5:c.*239G>A	ENSP00000425495.1:n.*239G>A
ENST00000622898.4:c.810G>A	ENSP00000481997.1:p.Ser270=
NM_001271667.1:c.672G>A	NP_001258596.1:p.Ser224=
NM_001271668.1:c.864G>A	NP_001258597.1:p.Ser288=
NM_001271669.1:c.810G>A	NP_001258598.1:p.Ser270=
NM_032122.4:c.915G>A , LRG_588t1:c.915G>A	NP_115498.2:p.Ser305=
XM_005249447.3:c.876G>A	XP_005249504.1:p.Ser292=
XM_011514936.1:c.825G>A	XP_011513238.1:p.Ser275=
XM_011514937.1:c.447G>A	XP_011513239.1:p.Ser149=
XM_005249447.4:c.876G>A	XP_005249504.1:p.Ser292=
XM_011514936.3:c.825G>A	XP_011513238.1:p.Ser275=
XM_011514937.2:c.447G>A	XP_011513239.1:p.Ser149=
XM_017011348.1:c.465G>A	XP_016866837.1:p.Ser155=
XM_017011349.1:c.462G>A	XP_016866838.1:p.Ser154=
XM_024446567.1:c.516G>A	XP_024302335.1:p.Ser172=
NM_032122.5:c.915G>A MANE Select	NP_115498.2:p.Ser305=
NM_001271667.2:c.672G>A	NP_001258596.1:p.Ser224=
NM_001271668.2:c.864G>A	NP_001258597.1:p.Ser288=
NM_001271669.2:c.810G>A	NP_001258598.1:p.Ser270=