Canonical Allele Identifier: CA2592588340

Gene: DTNBP1

Linked Data

• dbSNP Id: rs2113740758
• gnomAD v3: 6-15627894-C-T
• gnomAD v4: 6-15627894-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.15627894C>T , CM000668.2:g.15627894C>T	GRCh38
NC_000006.11:g.15628125C>T , CM000668.1:g.15628125C>T	GRCh37
NC_000006.10:g.15736104C>T	NCBI36
NG_009309.1:g.40147G>A , LRG_588:g.40147G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000344537.10:c.223-419G>A MANE Select	ENSP00000341680.6:n.223-419G>A
ENST00000338950.9:c.223-419G>A	ENSP00000344718.5:n.223-419G>A
ENST00000344537.9:c.223-419G>A	ENSP00000341680.5:n.223-419G>A
ENST00000355917.7:c.172-419G>A	ENSP00000348183.4:n.172-419G>A
ENST00000506844.1:c.*221-419G>A	ENSP00000424202.1:n.*221-419G>A
ENST00000510395.5:c.*133-419G>A	ENSP00000424685.1:n.*133-419G>A
ENST00000511762.2:c.118-419G>A	ENSP00000427473.2:n.118-419G>A
ENST00000513680.5:c.*221-419G>A	ENSP00000424357.1:n.*221-419G>A
ENST00000515875.5:c.172-419G>A	ENSP00000425495.1:n.172-419G>A
ENST00000622898.4:c.118-419G>A	ENSP00000481997.1:n.118-419G>A
NM_001271667.1:c.-21-419G>A	NP_001258596.1:n.-21-419G>A
NM_001271668.1:c.172-419G>A	NP_001258597.1:n.172-419G>A
NM_001271669.1:c.118-419G>A	NP_001258598.1:n.118-419G>A
NM_032122.4:c.223-419G>A , LRG_588t1:c.223-419G>A	NP_115498.2:n.223-419G>A
NM_183040.2:c.223-419G>A , LRG_588t2:c.223-419G>A	NP_898861.1:n.223-419G>A
NR_036448.1:n.551-419G>A
XM_005249447.3:c.184-419G>A	XP_005249504.1:n.184-419G>A
XM_011514936.1:c.133-419G>A	XP_011513238.1:n.133-419G>A
XM_005249447.4:c.184-419G>A	XP_005249504.1:n.184-419G>A
XM_011514936.3:c.133-419G>A	XP_011513238.1:n.133-419G>A
NM_032122.5:c.223-419G>A MANE Select	NP_115498.2:n.223-419G>A
NR_036448.2:n.521-419G>A
NM_001271667.2:c.-21-419G>A	NP_001258596.1:n.-21-419G>A
NM_001271668.2:c.172-419G>A	NP_001258597.1:n.172-419G>A
NM_001271669.2:c.118-419G>A	NP_001258598.1:n.118-419G>A
NR_036448.3:n.521-419G>A