Canonical Allele Identifier: CA340087
Gene: DTNBP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3432
dbSNP Id: rs104893945
gnomAD v2: 6-15627622-G-A
gnomAD v3: 6-15627391-G-A
gnomAD v4: 6-15627391-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.15627391G>A , CM000668.2:g.15627391G>A GRCh38
NC_000006.11:g.15627622G>A , CM000668.1:g.15627622G>A GRCh37
NC_000006.10:g.15735601G>A NCBI36
NG_009309.1:g.40650C>T , LRG_588:g.40650C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000344537.10:c.307C>T MANE Select ENSP00000341680.6:p.Gln103Ter
ENST00000338950.9:c.307C>T ENSP00000344718.5:p.Gln103Ter
ENST00000344537.9:c.307C>T ENSP00000341680.5:p.Gln103Ter
ENST00000355917.7:c.256C>T ENSP00000348183.4:p.Gln86Ter
ENST00000506844.1:c.*305C>T ENSP00000424202.1:n.*305C>T
ENST00000510395.5:c.*217C>T ENSP00000424685.1:n.*217C>T
ENST00000511762.2:c.202C>T ENSP00000427473.2:p.Gln68Ter
ENST00000513680.5:c.*305C>T ENSP00000424357.1:n.*305C>T
ENST00000515875.5:c.256C>T ENSP00000425495.1:p.Gln86Ter
ENST00000622898.4:c.202C>T ENSP00000481997.1:p.Gln68Ter
NM_001271667.1:c.64C>T NP_001258596.1:p.Gln22Ter
NM_001271668.1:c.256C>T NP_001258597.1:p.Gln86Ter
NM_001271669.1:c.202C>T NP_001258598.1:p.Gln68Ter
NM_032122.4:c.307C>T , LRG_588t1:c.307C>T NP_115498.2:p.Gln103Ter
NM_183040.2:c.307C>T , LRG_588t2:c.307C>T NP_898861.1:p.Gln103Ter
NR_036448.1:n.635C>T
XM_005249447.3:c.268C>T XP_005249504.1:p.Gln90Ter
XM_011514936.1:c.217C>T XP_011513238.1:p.Gln73Ter
XM_005249447.4:c.268C>T XP_005249504.1:p.Gln90Ter
XM_011514936.3:c.217C>T XP_011513238.1:p.Gln73Ter
NM_032122.5:c.307C>T MANE Select NP_115498.2:p.Gln103Ter
NR_036448.2:n.605C>T
NM_001271667.2:c.64C>T NP_001258596.1:p.Gln22Ter
NM_001271668.2:c.256C>T NP_001258597.1:p.Gln86Ter
NM_001271669.2:c.202C>T NP_001258598.1:p.Gln68Ter
NR_036448.3:n.605C>T