Canonical Allele Identifier: CA362869115

Gene: DTNBP1

Linked Data

• MyVariant Identifiers: chr6:g.15627705A>C (hg19) ; chr6:g.15627474A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.15627474A>C , CM000668.2:g.15627474A>C	GRCh38
NC_000006.11:g.15627705A>C , CM000668.1:g.15627705A>C	GRCh37
NC_000006.10:g.15735684A>C	NCBI36
NG_009309.1:g.40567T>G , LRG_588:g.40567T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344537.10:c.224T>G MANE Select	ENSP00000341680.6:p.Leu75Arg
ENST00000338950.9:c.224T>G	ENSP00000344718.5:p.Leu75Arg
ENST00000344537.9:c.224T>G	ENSP00000341680.5:p.Leu75Arg
ENST00000355917.7:c.173T>G	ENSP00000348183.4:p.Leu58Arg
ENST00000506844.1:c.*222T>G	ENSP00000424202.1:n.*222T>G
ENST00000510395.5:c.*134T>G	ENSP00000424685.1:n.*134T>G
ENST00000511762.2:c.119T>G	ENSP00000427473.2:p.Leu40Arg
ENST00000513680.5:c.*222T>G	ENSP00000424357.1:n.*222T>G
ENST00000515875.5:c.173T>G	ENSP00000425495.1:p.Leu58Arg
ENST00000622898.4:c.119T>G	ENSP00000481997.1:p.Leu40Arg
NM_001271667.1:c.-20T>G	NP_001258596.1:n.-20T>G
NM_001271668.1:c.173T>G	NP_001258597.1:p.Leu58Arg
NM_001271669.1:c.119T>G	NP_001258598.1:p.Leu40Arg
NM_032122.4:c.224T>G , LRG_588t1:c.224T>G	NP_115498.2:p.Leu75Arg
NM_183040.2:c.224T>G , LRG_588t2:c.224T>G	NP_898861.1:p.Leu75Arg
NR_036448.1:n.552T>G
XM_005249447.3:c.185T>G	XP_005249504.1:p.Leu62Arg
XM_011514936.1:c.134T>G	XP_011513238.1:p.Leu45Arg
XM_005249447.4:c.185T>G	XP_005249504.1:p.Leu62Arg
XM_011514936.3:c.134T>G	XP_011513238.1:p.Leu45Arg
NM_032122.5:c.224T>G MANE Select	NP_115498.2:p.Leu75Arg
NR_036448.2:n.522T>G
NM_001271667.2:c.-20T>G	NP_001258596.1:n.-20T>G
NM_001271668.2:c.173T>G	NP_001258597.1:p.Leu58Arg
NM_001271669.2:c.119T>G	NP_001258598.1:p.Leu40Arg
NR_036448.3:n.522T>G