Canonical Allele Identifier: CA3644218

Gene: DTNBP1

Linked Data

• ClinVar Variation Id: 1346063
• ClinVar RCV Id: RCV002041335
• dbSNP Id: rs77460377
• ExAC: 6:15638035 C / G
• gnomAD v2: 6-15638035-C-G
• gnomAD v3: 6-15637804-C-G
• gnomAD v4: 6-15637804-C-G
• MyVariant Identifiers: chr6:g.15638035C>G (hg19) ; chr6:g.15637804C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.15637804C>G , CM000668.2:g.15637804C>G	GRCh38
NC_000006.11:g.15638035C>G , CM000668.1:g.15638035C>G	GRCh37
NC_000006.10:g.15746014C>G	NCBI36
NG_009309.1:g.30237G>C , LRG_588:g.30237G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344537.10:c.162G>C MANE Select	ENSP00000341680.6:p.Arg54Ser
ENST00000338950.9:c.162G>C	ENSP00000344718.5:p.Arg54Ser
ENST00000344537.9:c.162G>C	ENSP00000341680.5:p.Arg54Ser
ENST00000355917.7:c.111G>C	ENSP00000348183.4:p.Arg37Ser
ENST00000506844.1:c.*160G>C	ENSP00000424202.1:n.*160G>C
ENST00000510395.5:c.*72G>C	ENSP00000424685.1:n.*72G>C
ENST00000511762.2:c.57G>C	ENSP00000427473.2:p.Gly19=
ENST00000513680.5:c.*160G>C	ENSP00000424357.1:n.*160G>C
ENST00000515875.5:c.111G>C	ENSP00000425495.1:p.Arg37Ser
ENST00000622898.4:c.57G>C	ENSP00000481997.1:p.Gly19=
NM_001271667.1:c.-82G>C	NP_001258596.1:n.-82G>C
NM_001271668.1:c.111G>C	NP_001258597.1:p.Arg37Ser
NM_001271669.1:c.57G>C	NP_001258598.1:p.Gly19=
NM_032122.4:c.162G>C , LRG_588t1:c.162G>C	NP_115498.2:p.Arg54Ser
NM_183040.2:c.162G>C , LRG_588t2:c.162G>C	NP_898861.1:p.Arg54Ser
NR_036448.1:n.490G>C
XM_005249447.3:c.123G>C	XP_005249504.1:p.Arg41Ser
XM_011514936.1:c.72G>C	XP_011513238.1:p.Arg24Ser
XM_005249447.4:c.123G>C	XP_005249504.1:p.Arg41Ser
XM_011514936.3:c.72G>C	XP_011513238.1:p.Arg24Ser
NM_032122.5:c.162G>C MANE Select	NP_115498.2:p.Arg54Ser
NR_036448.2:n.460G>C
NM_001271667.2:c.-82G>C	NP_001258596.1:n.-82G>C
NM_001271668.2:c.111G>C	NP_001258597.1:p.Arg37Ser
NM_001271669.2:c.57G>C	NP_001258598.1:p.Gly19=
NR_036448.3:n.460G>C