Canonical Allele Identifier: CA362868999

Gene: DTNBP1

Linked Data

• MyVariant Identifiers: chr6:g.15627655T>C (hg19) ; chr6:g.15627424T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.15627424T>C , CM000668.2:g.15627424T>C	GRCh38
NC_000006.11:g.15627655T>C , CM000668.1:g.15627655T>C	GRCh37
NC_000006.10:g.15735634T>C	NCBI36
NG_009309.1:g.40617A>G , LRG_588:g.40617A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344537.10:c.274A>G MANE Select	ENSP00000341680.6:p.Thr92Ala
ENST00000338950.9:c.274A>G	ENSP00000344718.5:p.Thr92Ala
ENST00000344537.9:c.274A>G	ENSP00000341680.5:p.Thr92Ala
ENST00000355917.7:c.223A>G	ENSP00000348183.4:p.Thr75Ala
ENST00000506844.1:c.*272A>G	ENSP00000424202.1:n.*272A>G
ENST00000510395.5:c.*184A>G	ENSP00000424685.1:n.*184A>G
ENST00000511762.2:c.169A>G	ENSP00000427473.2:p.Thr57Ala
ENST00000513680.5:c.*272A>G	ENSP00000424357.1:n.*272A>G
ENST00000515875.5:c.223A>G	ENSP00000425495.1:p.Thr75Ala
ENST00000622898.4:c.169A>G	ENSP00000481997.1:p.Thr57Ala
NM_001271667.1:c.31A>G	NP_001258596.1:p.Thr11Ala
NM_001271668.1:c.223A>G	NP_001258597.1:p.Thr75Ala
NM_001271669.1:c.169A>G	NP_001258598.1:p.Thr57Ala
NM_032122.4:c.274A>G , LRG_588t1:c.274A>G	NP_115498.2:p.Thr92Ala
NM_183040.2:c.274A>G , LRG_588t2:c.274A>G	NP_898861.1:p.Thr92Ala
NR_036448.1:n.602A>G
XM_005249447.3:c.235A>G	XP_005249504.1:p.Thr79Ala
XM_011514936.1:c.184A>G	XP_011513238.1:p.Thr62Ala
XM_005249447.4:c.235A>G	XP_005249504.1:p.Thr79Ala
XM_011514936.3:c.184A>G	XP_011513238.1:p.Thr62Ala
NM_032122.5:c.274A>G MANE Select	NP_115498.2:p.Thr92Ala
NR_036448.2:n.572A>G
NM_001271667.2:c.31A>G	NP_001258596.1:p.Thr11Ala
NM_001271668.2:c.223A>G	NP_001258597.1:p.Thr75Ala
NM_001271669.2:c.169A>G	NP_001258598.1:p.Thr57Ala
NR_036448.3:n.572A>G