Canonical Allele Identifier: CA135267328
Gene: DTNBP1 HGNC NCBI

Linked Data

dbSNP Id: rs760761
gnomAD v2: 6-15651132-G-A
gnomAD v3: 6-15650901-G-A
gnomAD v4: 6-15650901-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.15650901G>A , CM000668.2:g.15650901G>A GRCh38
NC_000006.11:g.15651132G>A , CM000668.1:g.15651132G>A GRCh37
NC_000006.10:g.15759111G>A NCBI36
NG_009309.1:g.17140C>T , LRG_588:g.17140C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000344537.10:c.161+412C>T MANE Select ENSP00000341680.6:n.161+412C>T
ENST00000338950.9:c.161+412C>T ENSP00000344718.5:n.161+412C>T
ENST00000344537.9:c.161+412C>T ENSP00000341680.5:n.161+412C>T
ENST00000355917.7:c.110+1186C>T ENSP00000348183.4:n.110+1186C>T
ENST00000506844.1:c.*159+412C>T ENSP00000424202.1:n.*159+412C>T
ENST00000510395.5:c.*71+412C>T ENSP00000424685.1:n.*71+412C>T
ENST00000511762.2:c.56+11913C>T ENSP00000427473.2:n.56+11913C>T
ENST00000513680.5:c.*159+412C>T ENSP00000424357.1:n.*159+412C>T
ENST00000515875.5:c.110+1186C>T ENSP00000425495.1:n.110+1186C>T
ENST00000622898.4:c.56+11913C>T ENSP00000481997.1:n.56+11913C>T
NM_001271667.1:c.-83+412C>T NP_001258596.1:n.-83+412C>T
NM_001271668.1:c.110+1186C>T NP_001258597.1:n.110+1186C>T
NM_001271669.1:c.56+11913C>T NP_001258598.1:n.56+11913C>T
NM_032122.4:c.161+412C>T , LRG_588t1:c.161+412C>T NP_115498.2:n.161+412C>T
NM_183040.2:c.161+412C>T , LRG_588t2:c.161+412C>T NP_898861.1:n.161+412C>T
NR_036448.1:n.489+412C>T
XM_005249447.3:c.122+412C>T XP_005249504.1:n.122+412C>T
XM_011514936.1:c.71+1186C>T XP_011513238.1:n.71+1186C>T
XM_005249447.4:c.122+412C>T XP_005249504.1:n.122+412C>T
XM_011514936.3:c.71+1186C>T XP_011513238.1:n.71+1186C>T
NM_032122.5:c.161+412C>T MANE Select NP_115498.2:n.161+412C>T
NR_036448.2:n.459+412C>T
NM_001271667.2:c.-83+412C>T NP_001258596.1:n.-83+412C>T
NM_001271668.2:c.110+1186C>T NP_001258597.1:n.110+1186C>T
NM_001271669.2:c.56+11913C>T NP_001258598.1:n.56+11913C>T
NR_036448.3:n.459+412C>T