Canonical Allele Identifier: CA448827279
Gene: DTNBP1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr6:g.15627686G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.15627455G>T , CM000668.2:g.15627455G>T GRCh38
NC_000006.11:g.15627686G>T , CM000668.1:g.15627686G>T GRCh37
NC_000006.10:g.15735665G>T NCBI36
NG_009309.1:g.40586C>A , LRG_588:g.40586C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000344537.10:c.243C>A MANE Select ENSP00000341680.6:p.Val81=
ENST00000338950.9:c.243C>A ENSP00000344718.5:p.Val81=
ENST00000344537.9:c.243C>A ENSP00000341680.5:p.Val81=
ENST00000355917.7:c.192C>A ENSP00000348183.4:p.Val64=
ENST00000506844.1:c.*241C>A ENSP00000424202.1:n.*241C>A
ENST00000510395.5:c.*153C>A ENSP00000424685.1:n.*153C>A
ENST00000511762.2:c.138C>A ENSP00000427473.2:p.Val46=
ENST00000513680.5:c.*241C>A ENSP00000424357.1:n.*241C>A
ENST00000515875.5:c.192C>A ENSP00000425495.1:p.Val64=
ENST00000622898.4:c.138C>A ENSP00000481997.1:p.Val46=
NM_001271667.1:c.-1C>A NP_001258596.1:n.-1C>A
NM_001271668.1:c.192C>A NP_001258597.1:p.Val64=
NM_001271669.1:c.138C>A NP_001258598.1:p.Val46=
NM_032122.4:c.243C>A , LRG_588t1:c.243C>A NP_115498.2:p.Val81=
NM_183040.2:c.243C>A , LRG_588t2:c.243C>A NP_898861.1:p.Val81=
NR_036448.1:n.571C>A
XM_005249447.3:c.204C>A XP_005249504.1:p.Val68=
XM_011514936.1:c.153C>A XP_011513238.1:p.Val51=
XM_005249447.4:c.204C>A XP_005249504.1:p.Val68=
XM_011514936.3:c.153C>A XP_011513238.1:p.Val51=
NM_032122.5:c.243C>A MANE Select NP_115498.2:p.Val81=
NR_036448.2:n.541C>A
NM_001271667.2:c.-1C>A NP_001258596.1:n.-1C>A
NM_001271668.2:c.192C>A NP_001258597.1:p.Val64=
NM_001271669.2:c.138C>A NP_001258598.1:p.Val46=
NR_036448.3:n.541C>A