Canonical Allele Identifier: CA135264860

Gene: DTNBP1

Linked Data

• dbSNP Id: rs945574500
• gnomAD v3: 6-15627423-G-A
• gnomAD v4: 6-15627423-G-A
• MyVariant Identifiers: chr6:g.15627654G>A (hg19) ; chr6:g.15627423G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.15627423G>A , CM000668.2:g.15627423G>A	GRCh38
NC_000006.11:g.15627654G>A , CM000668.1:g.15627654G>A	GRCh37
NC_000006.10:g.15735633G>A	NCBI36
NG_009309.1:g.40618C>T , LRG_588:g.40618C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344537.10:c.275C>T MANE Select	ENSP00000341680.6:p.Thr92Ile
ENST00000338950.9:c.275C>T	ENSP00000344718.5:p.Thr92Ile
ENST00000344537.9:c.275C>T	ENSP00000341680.5:p.Thr92Ile
ENST00000355917.7:c.224C>T	ENSP00000348183.4:p.Thr75Ile
ENST00000506844.1:c.*273C>T	ENSP00000424202.1:n.*273C>T
ENST00000510395.5:c.*185C>T	ENSP00000424685.1:n.*185C>T
ENST00000511762.2:c.170C>T	ENSP00000427473.2:p.Thr57Ile
ENST00000513680.5:c.*273C>T	ENSP00000424357.1:n.*273C>T
ENST00000515875.5:c.224C>T	ENSP00000425495.1:p.Thr75Ile
ENST00000622898.4:c.170C>T	ENSP00000481997.1:p.Thr57Ile
NM_001271667.1:c.32C>T	NP_001258596.1:p.Thr11Ile
NM_001271668.1:c.224C>T	NP_001258597.1:p.Thr75Ile
NM_001271669.1:c.170C>T	NP_001258598.1:p.Thr57Ile
NM_032122.4:c.275C>T , LRG_588t1:c.275C>T	NP_115498.2:p.Thr92Ile
NM_183040.2:c.275C>T , LRG_588t2:c.275C>T	NP_898861.1:p.Thr92Ile
NR_036448.1:n.603C>T
XM_005249447.3:c.236C>T	XP_005249504.1:p.Thr79Ile
XM_011514936.1:c.185C>T	XP_011513238.1:p.Thr62Ile
XM_005249447.4:c.236C>T	XP_005249504.1:p.Thr79Ile
XM_011514936.3:c.185C>T	XP_011513238.1:p.Thr62Ile
NM_032122.5:c.275C>T MANE Select	NP_115498.2:p.Thr92Ile
NR_036448.2:n.573C>T
NM_001271667.2:c.32C>T	NP_001258596.1:p.Thr11Ile
NM_001271668.2:c.224C>T	NP_001258597.1:p.Thr75Ile
NM_001271669.2:c.170C>T	NP_001258598.1:p.Thr57Ile
NR_036448.3:n.573C>T