Canonical Allele Identifier: CA448827258

Gene: DTNBP1

Linked Data

• dbSNP Id: rs754095042
• gnomAD v2: 6-15627640-G-A
• gnomAD v4: 6-15627409-G-A
• MyVariant Identifiers: chr6:g.15627640G>A (hg19) ; chr6:g.15627409G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.15627409G>A , CM000668.2:g.15627409G>A	GRCh38
NC_000006.11:g.15627640G>A , CM000668.1:g.15627640G>A	GRCh37
NC_000006.10:g.15735619G>A	NCBI36
NG_009309.1:g.40632C>T , LRG_588:g.40632C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344537.10:c.289C>T MANE Select	ENSP00000341680.6:p.Leu97=
ENST00000338950.9:c.289C>T	ENSP00000344718.5:p.Leu97=
ENST00000344537.9:c.289C>T	ENSP00000341680.5:p.Leu97=
ENST00000355917.7:c.238C>T	ENSP00000348183.4:p.Leu80=
ENST00000506844.1:c.*287C>T	ENSP00000424202.1:n.*287C>T
ENST00000510395.5:c.*199C>T	ENSP00000424685.1:n.*199C>T
ENST00000511762.2:c.184C>T	ENSP00000427473.2:p.Leu62=
ENST00000513680.5:c.*287C>T	ENSP00000424357.1:n.*287C>T
ENST00000515875.5:c.238C>T	ENSP00000425495.1:p.Leu80=
ENST00000622898.4:c.184C>T	ENSP00000481997.1:p.Leu62=
NM_001271667.1:c.46C>T	NP_001258596.1:p.Leu16=
NM_001271668.1:c.238C>T	NP_001258597.1:p.Leu80=
NM_001271669.1:c.184C>T	NP_001258598.1:p.Leu62=
NM_032122.4:c.289C>T , LRG_588t1:c.289C>T	NP_115498.2:p.Leu97=
NM_183040.2:c.289C>T , LRG_588t2:c.289C>T	NP_898861.1:p.Leu97=
NR_036448.1:n.617C>T
XM_005249447.3:c.250C>T	XP_005249504.1:p.Leu84=
XM_011514936.1:c.199C>T	XP_011513238.1:p.Leu67=
XM_005249447.4:c.250C>T	XP_005249504.1:p.Leu84=
XM_011514936.3:c.199C>T	XP_011513238.1:p.Leu67=
NM_032122.5:c.289C>T MANE Select	NP_115498.2:p.Leu97=
NR_036448.2:n.587C>T
NM_001271667.2:c.46C>T	NP_001258596.1:p.Leu16=
NM_001271668.2:c.238C>T	NP_001258597.1:p.Leu80=
NM_001271669.2:c.184C>T	NP_001258598.1:p.Leu62=
NR_036448.3:n.587C>T