Canonical Allele Identifier: CA3643701
Gene: DTNBP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.15523131G>A , CM000668.2:g.15523131G>A GRCh38
NC_000006.11:g.15523362G>A , CM000668.1:g.15523362G>A GRCh37
NC_000006.10:g.15631341G>A NCBI36
NG_009309.1:g.144910C>T , LRG_588:g.144910C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000344537.10:c.900C>T MANE Select ENSP00000341680.6:p.Ser300=
ENST00000344537.9:c.900C>T ENSP00000341680.5:p.Ser300=
ENST00000355917.7:c.849C>T ENSP00000348183.4:p.Ser283=
ENST00000462989.6:c.432C>T ENSP00000427239.1:p.Ser144=
ENST00000509674.1:c.351C>T ENSP00000421797.1:p.Ser117=
ENST00000510395.5:c.*810C>T ENSP00000424685.1:n.*810C>T
ENST00000513680.5:c.*900C>T ENSP00000424357.1:n.*900C>T
ENST00000515875.5:c.*224C>T ENSP00000425495.1:n.*224C>T
ENST00000622898.4:c.795C>T ENSP00000481997.1:p.Ser265=
NM_001271667.1:c.657C>T NP_001258596.1:p.Ser219=
NM_001271668.1:c.849C>T NP_001258597.1:p.Ser283=
NM_001271669.1:c.795C>T NP_001258598.1:p.Ser265=
NM_032122.4:c.900C>T , LRG_588t1:c.900C>T NP_115498.2:p.Ser300=
XM_005249447.3:c.861C>T XP_005249504.1:p.Ser287=
XM_011514936.1:c.810C>T XP_011513238.1:p.Ser270=
XM_011514937.1:c.432C>T XP_011513239.1:p.Ser144=
XM_005249447.4:c.861C>T XP_005249504.1:p.Ser287=
XM_011514936.3:c.810C>T XP_011513238.1:p.Ser270=
XM_011514937.2:c.432C>T XP_011513239.1:p.Ser144=
XM_017011348.1:c.450C>T XP_016866837.1:p.Ser150=
XM_017011349.1:c.447C>T XP_016866838.1:p.Ser149=
XM_024446567.1:c.501C>T XP_024302335.1:p.Ser167=
NM_032122.5:c.900C>T MANE Select NP_115498.2:p.Ser300=
NM_001271667.2:c.657C>T NP_001258596.1:p.Ser219=
NM_001271668.2:c.849C>T NP_001258597.1:p.Ser283=
NM_001271669.2:c.795C>T NP_001258598.1:p.Ser265=