Canonical Allele Identifier: CA135268284

Gene: DTNBP1

Linked Data

• dbSNP Id: rs551750494
• gnomAD v2: 6-15660712-G-A
• gnomAD v3: 6-15660481-G-A
• gnomAD v4: 6-15660481-G-A
• MyVariant Identifiers: chr6:g.15660712G>A (hg19) ; chr6:g.15660481G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.15660481G>A , CM000668.2:g.15660481G>A	GRCh38
NC_000006.11:g.15660712G>A , CM000668.1:g.15660712G>A	GRCh37
NC_000006.10:g.15768691G>A	NCBI36
NG_009309.1:g.7560C>T , LRG_588:g.7560C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344537.10:c.56+2333C>T MANE Select	ENSP00000341680.6:n.56+2333C>T
ENST00000338950.9:c.56+2333C>T	ENSP00000344718.5:n.56+2333C>T
ENST00000344537.9:c.56+2333C>T	ENSP00000341680.5:n.56+2333C>T
ENST00000355917.7:c.56+2333C>T	ENSP00000348183.4:n.56+2333C>T
ENST00000506844.1:c.97C>T	ENSP00000424202.1:p.Pro33Ser
ENST00000510395.5:c.56+2333C>T	ENSP00000424685.1:n.56+2333C>T
ENST00000511762.2:c.56+2333C>T	ENSP00000427473.2:n.56+2333C>T
ENST00000513680.5:c.97C>T	ENSP00000424357.1:p.Pro33Ser
ENST00000515875.5:c.56+2333C>T	ENSP00000425495.1:n.56+2333C>T
ENST00000622898.4:c.56+2333C>T	ENSP00000481997.1:n.56+2333C>T
NM_001271667.1:c.-233+2333C>T	NP_001258596.1:n.-233+2333C>T
NM_001271668.1:c.56+2333C>T	NP_001258597.1:n.56+2333C>T
NM_001271669.1:c.56+2333C>T	NP_001258598.1:n.56+2333C>T
NM_032122.4:c.56+2333C>T , LRG_588t1:c.56+2333C>T	NP_115498.2:n.56+2333C>T
NM_183040.2:c.56+2333C>T , LRG_588t2:c.56+2333C>T	NP_898861.1:n.56+2333C>T
NR_036448.1:n.286C>T
XM_005249447.3:c.-82C>T	XP_005249504.1:n.-82C>T
XM_011514936.1:c.-82C>T	XP_011513238.1:n.-82C>T
XM_005249447.4:c.-82C>T	XP_005249504.1:n.-82C>T
XM_011514936.3:c.-82C>T	XP_011513238.1:n.-82C>T
NM_032122.5:c.56+2333C>T MANE Select	NP_115498.2:n.56+2333C>T
NR_036448.2:n.256C>T
NM_001271667.2:c.-233+2333C>T	NP_001258596.1:n.-233+2333C>T
NM_001271668.2:c.56+2333C>T	NP_001258597.1:n.56+2333C>T
NM_001271669.2:c.56+2333C>T	NP_001258598.1:n.56+2333C>T
NR_036448.3:n.256C>T