Canonical Allele Identifier: CA448828055

Gene: DTNBP1

Linked Data

• ClinVar Variation Id: 1997120
• ClinVar RCV Id: RCV002807273
• MyVariant Identifiers: chr6:g.15638023T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.15637792T>C , CM000668.2:g.15637792T>C	GRCh38
NC_000006.11:g.15638023T>C , CM000668.1:g.15638023T>C	GRCh37
NC_000006.10:g.15746002T>C	NCBI36
NG_009309.1:g.30249A>G , LRG_588:g.30249A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000344537.10:c.174A>G MANE Select	ENSP00000341680.6:p.Thr58=
ENST00000338950.9:c.174A>G	ENSP00000344718.5:p.Thr58=
ENST00000344537.9:c.174A>G	ENSP00000341680.5:p.Thr58=
ENST00000355917.7:c.123A>G	ENSP00000348183.4:p.Thr41=
ENST00000506844.1:c.*172A>G	ENSP00000424202.1:n.*172A>G
ENST00000510395.5:c.*84A>G	ENSP00000424685.1:n.*84A>G
ENST00000511762.2:c.69A>G	ENSP00000427473.2:p.Thr23=
ENST00000513680.5:c.*172A>G	ENSP00000424357.1:n.*172A>G
ENST00000515875.5:c.123A>G	ENSP00000425495.1:p.Thr41=
ENST00000622898.4:c.69A>G	ENSP00000481997.1:p.Thr23=
NM_001271667.1:c.-70A>G	NP_001258596.1:n.-70A>G
NM_001271668.1:c.123A>G	NP_001258597.1:p.Thr41=
NM_001271669.1:c.69A>G	NP_001258598.1:p.Thr23=
NM_032122.4:c.174A>G , LRG_588t1:c.174A>G	NP_115498.2:p.Thr58=
NM_183040.2:c.174A>G , LRG_588t2:c.174A>G	NP_898861.1:p.Thr58=
NR_036448.1:n.502A>G
XM_005249447.3:c.135A>G	XP_005249504.1:p.Thr45=
XM_011514936.1:c.84A>G	XP_011513238.1:p.Thr28=
XM_005249447.4:c.135A>G	XP_005249504.1:p.Thr45=
XM_011514936.3:c.84A>G	XP_011513238.1:p.Thr28=
NM_032122.5:c.174A>G MANE Select	NP_115498.2:p.Thr58=
NR_036448.2:n.472A>G
NM_001271667.2:c.-70A>G	NP_001258596.1:n.-70A>G
NM_001271668.2:c.123A>G	NP_001258597.1:p.Thr41=
NM_001271669.2:c.69A>G	NP_001258598.1:p.Thr23=
NR_036448.3:n.472A>G