Canonical Allele Identifier: CA3644179

Gene: DTNBP1

Linked Data

• dbSNP Id: rs753298238
• ExAC: 6:15627647 G / C
• gnomAD v2: 6-15627647-G-C
• gnomAD v4: 6-15627416-G-C
• MyVariant Identifiers: chr6:g.15627647G>C (hg19) ; chr6:g.15627416G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.15627416G>C , CM000668.2:g.15627416G>C	GRCh38
NC_000006.11:g.15627647G>C , CM000668.1:g.15627647G>C	GRCh37
NC_000006.10:g.15735626G>C	NCBI36
NG_009309.1:g.40625C>G , LRG_588:g.40625C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344537.10:c.282C>G MANE Select	ENSP00000341680.6:p.Leu94=
ENST00000338950.9:c.282C>G	ENSP00000344718.5:p.Leu94=
ENST00000344537.9:c.282C>G	ENSP00000341680.5:p.Leu94=
ENST00000355917.7:c.231C>G	ENSP00000348183.4:p.Leu77=
ENST00000506844.1:c.*280C>G	ENSP00000424202.1:n.*280C>G
ENST00000510395.5:c.*192C>G	ENSP00000424685.1:n.*192C>G
ENST00000511762.2:c.177C>G	ENSP00000427473.2:p.Leu59=
ENST00000513680.5:c.*280C>G	ENSP00000424357.1:n.*280C>G
ENST00000515875.5:c.231C>G	ENSP00000425495.1:p.Leu77=
ENST00000622898.4:c.177C>G	ENSP00000481997.1:p.Leu59=
NM_001271667.1:c.39C>G	NP_001258596.1:p.Leu13=
NM_001271668.1:c.231C>G	NP_001258597.1:p.Leu77=
NM_001271669.1:c.177C>G	NP_001258598.1:p.Leu59=
NM_032122.4:c.282C>G , LRG_588t1:c.282C>G	NP_115498.2:p.Leu94=
NM_183040.2:c.282C>G , LRG_588t2:c.282C>G	NP_898861.1:p.Leu94=
NR_036448.1:n.610C>G
XM_005249447.3:c.243C>G	XP_005249504.1:p.Leu81=
XM_011514936.1:c.192C>G	XP_011513238.1:p.Leu64=
XM_005249447.4:c.243C>G	XP_005249504.1:p.Leu81=
XM_011514936.3:c.192C>G	XP_011513238.1:p.Leu64=
NM_032122.5:c.282C>G MANE Select	NP_115498.2:p.Leu94=
NR_036448.2:n.580C>G
NM_001271667.2:c.39C>G	NP_001258596.1:p.Leu13=
NM_001271668.2:c.231C>G	NP_001258597.1:p.Leu77=
NM_001271669.2:c.177C>G	NP_001258598.1:p.Leu59=
NR_036448.3:n.580C>G