Canonical Allele Identifier: CA362869607

Gene: DTNBP1

Linked Data

• dbSNP Id: rs770283266
• MyVariant Identifiers: chr6:g.15638019C>A (hg19) ; chr6:g.15637788C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.15637788C>A , CM000668.2:g.15637788C>A	GRCh38
NC_000006.11:g.15638019C>A , CM000668.1:g.15638019C>A	GRCh37
NC_000006.10:g.15745998C>A	NCBI36
NG_009309.1:g.30253G>T , LRG_588:g.30253G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344537.10:c.178G>T MANE Select	ENSP00000341680.6:p.Ala60Ser
ENST00000338950.9:c.178G>T	ENSP00000344718.5:p.Ala60Ser
ENST00000344537.9:c.178G>T	ENSP00000341680.5:p.Ala60Ser
ENST00000355917.7:c.127G>T	ENSP00000348183.4:p.Ala43Ser
ENST00000506844.1:c.*176G>T	ENSP00000424202.1:n.*176G>T
ENST00000510395.5:c.*88G>T	ENSP00000424685.1:n.*88G>T
ENST00000511762.2:c.73G>T	ENSP00000427473.2:p.Ala25Ser
ENST00000513680.5:c.*176G>T	ENSP00000424357.1:n.*176G>T
ENST00000515875.5:c.127G>T	ENSP00000425495.1:p.Ala43Ser
ENST00000622898.4:c.73G>T	ENSP00000481997.1:p.Ala25Ser
NM_001271667.1:c.-66G>T	NP_001258596.1:n.-66G>T
NM_001271668.1:c.127G>T	NP_001258597.1:p.Ala43Ser
NM_001271669.1:c.73G>T	NP_001258598.1:p.Ala25Ser
NM_032122.4:c.178G>T , LRG_588t1:c.178G>T	NP_115498.2:p.Ala60Ser
NM_183040.2:c.178G>T , LRG_588t2:c.178G>T	NP_898861.1:p.Ala60Ser
NR_036448.1:n.506G>T
XM_005249447.3:c.139G>T	XP_005249504.1:p.Ala47Ser
XM_011514936.1:c.88G>T	XP_011513238.1:p.Ala30Ser
XM_005249447.4:c.139G>T	XP_005249504.1:p.Ala47Ser
XM_011514936.3:c.88G>T	XP_011513238.1:p.Ala30Ser
NM_032122.5:c.178G>T MANE Select	NP_115498.2:p.Ala60Ser
NR_036448.2:n.476G>T
NM_001271667.2:c.-66G>T	NP_001258596.1:n.-66G>T
NM_001271668.2:c.127G>T	NP_001258597.1:p.Ala43Ser
NM_001271669.2:c.73G>T	NP_001258598.1:p.Ala25Ser
NR_036448.3:n.476G>T