Canonical Allele Identifier: CA565717341

Gene: DTNBP1

Linked Data

• dbSNP Id: rs1181135242
• gnomAD v2: 6-15638061-A-C
• gnomAD v4: 6-15637830-A-C
• MyVariant Identifiers: chr6:g.15638061A>C (hg19) ; chr6:g.15637830A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.15637830A>C , CM000668.2:g.15637830A>C	GRCh38
NC_000006.11:g.15638061A>C , CM000668.1:g.15638061A>C	GRCh37
NC_000006.10:g.15746040A>C	NCBI36
NG_009309.1:g.30211T>G , LRG_588:g.30211T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344537.10:c.162-26T>G MANE Select	ENSP00000341680.6:n.162-26T>G
ENST00000338950.9:c.162-26T>G	ENSP00000344718.5:n.162-26T>G
ENST00000344537.9:c.162-26T>G	ENSP00000341680.5:n.162-26T>G
ENST00000355917.7:c.111-26T>G	ENSP00000348183.4:n.111-26T>G
ENST00000506844.1:c.*160-26T>G	ENSP00000424202.1:n.*160-26T>G
ENST00000510395.5:c.*72-26T>G	ENSP00000424685.1:n.*72-26T>G
ENST00000511762.2:c.57-26T>G	ENSP00000427473.2:n.57-26T>G
ENST00000513680.5:c.*160-26T>G	ENSP00000424357.1:n.*160-26T>G
ENST00000515875.5:c.111-26T>G	ENSP00000425495.1:n.111-26T>G
ENST00000622898.4:c.57-26T>G	ENSP00000481997.1:n.57-26T>G
NM_001271667.1:c.-82-26T>G	NP_001258596.1:n.-82-26T>G
NM_001271668.1:c.111-26T>G	NP_001258597.1:n.111-26T>G
NM_001271669.1:c.57-26T>G	NP_001258598.1:n.57-26T>G
NM_032122.4:c.162-26T>G , LRG_588t1:c.162-26T>G	NP_115498.2:n.162-26T>G
NM_183040.2:c.162-26T>G , LRG_588t2:c.162-26T>G	NP_898861.1:n.162-26T>G
NR_036448.1:n.490-26T>G
XM_005249447.3:c.123-26T>G	XP_005249504.1:n.123-26T>G
XM_011514936.1:c.72-26T>G	XP_011513238.1:n.72-26T>G
XM_005249447.4:c.123-26T>G	XP_005249504.1:n.123-26T>G
XM_011514936.3:c.72-26T>G	XP_011513238.1:n.72-26T>G
NM_032122.5:c.162-26T>G MANE Select	NP_115498.2:n.162-26T>G
NR_036448.2:n.460-26T>G
NM_001271667.2:c.-82-26T>G	NP_001258596.1:n.-82-26T>G
NM_001271668.2:c.111-26T>G	NP_001258597.1:n.111-26T>G
NM_001271669.2:c.57-26T>G	NP_001258598.1:n.57-26T>G
NR_036448.3:n.460-26T>G