Canonical Allele Identifier: CA448953514

Gene: DTNBP1

Linked Data

• ClinVar Variation Id: 1661502
• ClinVar RCV Id: RCV002176658
• dbSNP Id: rs765885936
• MyVariant Identifiers: chr6:g.15523305A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.15523074A>G , CM000668.2:g.15523074A>G	GRCh38
NC_000006.11:g.15523305A>G , CM000668.1:g.15523305A>G	GRCh37
NC_000006.10:g.15631284A>G	NCBI36
NG_009309.1:g.144967T>C , LRG_588:g.144967T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344537.10:c.957T>C MANE Select	ENSP00000341680.6:p.Val319=
ENST00000344537.9:c.957T>C	ENSP00000341680.5:p.Val319=
ENST00000355917.7:c.906T>C	ENSP00000348183.4:p.Val302=
ENST00000462989.6:c.489T>C	ENSP00000427239.1:p.Val163=
ENST00000509674.1:c.408T>C	ENSP00000421797.1:p.Val136=
ENST00000510395.5:c.*867T>C	ENSP00000424685.1:n.*867T>C
ENST00000513680.5:c.*957T>C	ENSP00000424357.1:n.*957T>C
ENST00000515875.5:c.*281T>C	ENSP00000425495.1:n.*281T>C
ENST00000622898.4:c.852T>C	ENSP00000481997.1:p.Val284=
NM_001271667.1:c.714T>C	NP_001258596.1:p.Val238=
NM_001271668.1:c.906T>C	NP_001258597.1:p.Val302=
NM_001271669.1:c.852T>C	NP_001258598.1:p.Val284=
NM_032122.4:c.957T>C , LRG_588t1:c.957T>C	NP_115498.2:p.Val319=
XM_005249447.3:c.918T>C	XP_005249504.1:p.Val306=
XM_011514936.1:c.867T>C	XP_011513238.1:p.Val289=
XM_011514937.1:c.489T>C	XP_011513239.1:p.Val163=
XM_005249447.4:c.918T>C	XP_005249504.1:p.Val306=
XM_011514936.3:c.867T>C	XP_011513238.1:p.Val289=
XM_011514937.2:c.489T>C	XP_011513239.1:p.Val163=
XM_017011348.1:c.507T>C	XP_016866837.1:p.Val169=
XM_017011349.1:c.504T>C	XP_016866838.1:p.Val168=
XM_024446567.1:c.558T>C	XP_024302335.1:p.Val186=
NM_032122.5:c.957T>C MANE Select	NP_115498.2:p.Val319=
NM_001271667.2:c.714T>C	NP_001258596.1:p.Val238=
NM_001271668.2:c.906T>C	NP_001258597.1:p.Val302=
NM_001271669.2:c.852T>C	NP_001258598.1:p.Val284=