Canonical Allele Identifier: CA1086296273

Gene: DTNBP1

Linked Data

• dbSNP Id: rs1760042749
• gnomAD v3: 6-15636633-C-G
• gnomAD v4: 6-15636633-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.15636633C>G , CM000668.2:g.15636633C>G	GRCh38
NC_000006.11:g.15636864C>G , CM000668.1:g.15636864C>G	GRCh37
NC_000006.10:g.15744843C>G	NCBI36
NG_009309.1:g.31408G>C , LRG_588:g.31408G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000344537.10:c.222+1111G>C MANE Select	ENSP00000341680.6:n.222+1111G>C
ENST00000338950.9:c.222+1111G>C	ENSP00000344718.5:n.222+1111G>C
ENST00000344537.9:c.222+1111G>C	ENSP00000341680.5:n.222+1111G>C
ENST00000355917.7:c.171+1111G>C	ENSP00000348183.4:n.171+1111G>C
ENST00000506844.1:c.*220+1111G>C	ENSP00000424202.1:n.*220+1111G>C
ENST00000510395.5:c.*132+1111G>C	ENSP00000424685.1:n.*132+1111G>C
ENST00000511762.2:c.117+1111G>C	ENSP00000427473.2:n.117+1111G>C
ENST00000513680.5:c.*220+1111G>C	ENSP00000424357.1:n.*220+1111G>C
ENST00000515875.5:c.171+1111G>C	ENSP00000425495.1:n.171+1111G>C
ENST00000622898.4:c.117+1111G>C	ENSP00000481997.1:n.117+1111G>C
NM_001271667.1:c.-22+1111G>C	NP_001258596.1:n.-22+1111G>C
NM_001271668.1:c.171+1111G>C	NP_001258597.1:n.171+1111G>C
NM_001271669.1:c.117+1111G>C	NP_001258598.1:n.117+1111G>C
NM_032122.4:c.222+1111G>C , LRG_588t1:c.222+1111G>C	NP_115498.2:n.222+1111G>C
NM_183040.2:c.222+1111G>C , LRG_588t2:c.222+1111G>C	NP_898861.1:n.222+1111G>C
NR_036448.1:n.550+1111G>C
XM_005249447.3:c.183+1111G>C	XP_005249504.1:n.183+1111G>C
XM_011514936.1:c.132+1111G>C	XP_011513238.1:n.132+1111G>C
XM_005249447.4:c.183+1111G>C	XP_005249504.1:n.183+1111G>C
XM_011514936.3:c.132+1111G>C	XP_011513238.1:n.132+1111G>C
NM_032122.5:c.222+1111G>C MANE Select	NP_115498.2:n.222+1111G>C
NR_036448.2:n.520+1111G>C
NM_001271667.2:c.-22+1111G>C	NP_001258596.1:n.-22+1111G>C
NM_001271668.2:c.171+1111G>C	NP_001258597.1:n.171+1111G>C
NM_001271669.2:c.117+1111G>C	NP_001258598.1:n.117+1111G>C
NR_036448.3:n.520+1111G>C