Canonical Allele Identifier: CA362868977

Gene: DTNBP1

Linked Data

• dbSNP Id: rs1415761555
• gnomAD v2: 6-15627643-C-G
• MyVariant Identifiers: chr6:g.15627643C>G (hg19) ; chr6:g.15627412C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.15627412C>G , CM000668.2:g.15627412C>G	GRCh38
NC_000006.11:g.15627643C>G , CM000668.1:g.15627643C>G	GRCh37
NC_000006.10:g.15735622C>G	NCBI36
NG_009309.1:g.40629G>C , LRG_588:g.40629G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344537.10:c.286G>C MANE Select	ENSP00000341680.6:p.Glu96Gln
ENST00000338950.9:c.286G>C	ENSP00000344718.5:p.Glu96Gln
ENST00000344537.9:c.286G>C	ENSP00000341680.5:p.Glu96Gln
ENST00000355917.7:c.235G>C	ENSP00000348183.4:p.Glu79Gln
ENST00000506844.1:c.*284G>C	ENSP00000424202.1:n.*284G>C
ENST00000510395.5:c.*196G>C	ENSP00000424685.1:n.*196G>C
ENST00000511762.2:c.181G>C	ENSP00000427473.2:p.Glu61Gln
ENST00000513680.5:c.*284G>C	ENSP00000424357.1:n.*284G>C
ENST00000515875.5:c.235G>C	ENSP00000425495.1:p.Glu79Gln
ENST00000622898.4:c.181G>C	ENSP00000481997.1:p.Glu61Gln
NM_001271667.1:c.43G>C	NP_001258596.1:p.Glu15Gln
NM_001271668.1:c.235G>C	NP_001258597.1:p.Glu79Gln
NM_001271669.1:c.181G>C	NP_001258598.1:p.Glu61Gln
NM_032122.4:c.286G>C , LRG_588t1:c.286G>C	NP_115498.2:p.Glu96Gln
NM_183040.2:c.286G>C , LRG_588t2:c.286G>C	NP_898861.1:p.Glu96Gln
NR_036448.1:n.614G>C
XM_005249447.3:c.247G>C	XP_005249504.1:p.Glu83Gln
XM_011514936.1:c.196G>C	XP_011513238.1:p.Glu66Gln
XM_005249447.4:c.247G>C	XP_005249504.1:p.Glu83Gln
XM_011514936.3:c.196G>C	XP_011513238.1:p.Glu66Gln
NM_032122.5:c.286G>C MANE Select	NP_115498.2:p.Glu96Gln
NR_036448.2:n.584G>C
NM_001271667.2:c.43G>C	NP_001258596.1:p.Glu15Gln
NM_001271668.2:c.235G>C	NP_001258597.1:p.Glu79Gln
NM_001271669.2:c.181G>C	NP_001258598.1:p.Glu61Gln
NR_036448.3:n.584G>C