Canonical Allele Identifier: CA362869628

Gene: DTNBP1

Linked Data

• MyVariant Identifiers: chr6:g.15638028C>A (hg19) ; chr6:g.15637797C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.15637797C>A , CM000668.2:g.15637797C>A	GRCh38
NC_000006.11:g.15638028C>A , CM000668.1:g.15638028C>A	GRCh37
NC_000006.10:g.15746007C>A	NCBI36
NG_009309.1:g.30244G>T , LRG_588:g.30244G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000344537.10:c.169G>T MANE Select	ENSP00000341680.6:p.Asp57Tyr
ENST00000338950.9:c.169G>T	ENSP00000344718.5:p.Asp57Tyr
ENST00000344537.9:c.169G>T	ENSP00000341680.5:p.Asp57Tyr
ENST00000355917.7:c.118G>T	ENSP00000348183.4:p.Asp40Tyr
ENST00000506844.1:c.*167G>T	ENSP00000424202.1:n.*167G>T
ENST00000510395.5:c.*79G>T	ENSP00000424685.1:n.*79G>T
ENST00000511762.2:c.64G>T	ENSP00000427473.2:p.Asp22Tyr
ENST00000513680.5:c.*167G>T	ENSP00000424357.1:n.*167G>T
ENST00000515875.5:c.118G>T	ENSP00000425495.1:p.Asp40Tyr
ENST00000622898.4:c.64G>T	ENSP00000481997.1:p.Asp22Tyr
NM_001271667.1:c.-75G>T	NP_001258596.1:n.-75G>T
NM_001271668.1:c.118G>T	NP_001258597.1:p.Asp40Tyr
NM_001271669.1:c.64G>T	NP_001258598.1:p.Asp22Tyr
NM_032122.4:c.169G>T , LRG_588t1:c.169G>T	NP_115498.2:p.Asp57Tyr
NM_183040.2:c.169G>T , LRG_588t2:c.169G>T	NP_898861.1:p.Asp57Tyr
NR_036448.1:n.497G>T
XM_005249447.3:c.130G>T	XP_005249504.1:p.Asp44Tyr
XM_011514936.1:c.79G>T	XP_011513238.1:p.Asp27Tyr
XM_005249447.4:c.130G>T	XP_005249504.1:p.Asp44Tyr
XM_011514936.3:c.79G>T	XP_011513238.1:p.Asp27Tyr
NM_032122.5:c.169G>T MANE Select	NP_115498.2:p.Asp57Tyr
NR_036448.2:n.467G>T
NM_001271667.2:c.-75G>T	NP_001258596.1:n.-75G>T
NM_001271668.2:c.118G>T	NP_001258597.1:p.Asp40Tyr
NM_001271669.2:c.64G>T	NP_001258598.1:p.Asp22Tyr
NR_036448.3:n.467G>T