Canonical Allele Identifier: CA3644174

Gene: DTNBP1

Linked Data

• dbSNP Id: rs760871025
• ExAC: 6:15627623 C / A
• gnomAD v2: 6-15627623-C-A
• gnomAD v3: 6-15627392-C-A
• gnomAD v4: 6-15627392-C-A
• MyVariant Identifiers: chr6:g.15627623C>A (hg19) ; chr6:g.15627392C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.15627392C>A , CM000668.2:g.15627392C>A	GRCh38
NC_000006.11:g.15627623C>A , CM000668.1:g.15627623C>A	GRCh37
NC_000006.10:g.15735602C>A	NCBI36
NG_009309.1:g.40649G>T , LRG_588:g.40649G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000344537.10:c.306G>T MANE Select	ENSP00000341680.6:p.Gln102His
ENST00000338950.9:c.306G>T	ENSP00000344718.5:p.Gln102His
ENST00000344537.9:c.306G>T	ENSP00000341680.5:p.Gln102His
ENST00000355917.7:c.255G>T	ENSP00000348183.4:p.Gln85His
ENST00000506844.1:c.*304G>T	ENSP00000424202.1:n.*304G>T
ENST00000510395.5:c.*216G>T	ENSP00000424685.1:n.*216G>T
ENST00000511762.2:c.201G>T	ENSP00000427473.2:p.Gln67His
ENST00000513680.5:c.*304G>T	ENSP00000424357.1:n.*304G>T
ENST00000515875.5:c.255G>T	ENSP00000425495.1:p.Gln85His
ENST00000622898.4:c.201G>T	ENSP00000481997.1:p.Gln67His
NM_001271667.1:c.63G>T	NP_001258596.1:p.Gln21His
NM_001271668.1:c.255G>T	NP_001258597.1:p.Gln85His
NM_001271669.1:c.201G>T	NP_001258598.1:p.Gln67His
NM_032122.4:c.306G>T , LRG_588t1:c.306G>T	NP_115498.2:p.Gln102His
NM_183040.2:c.306G>T , LRG_588t2:c.306G>T	NP_898861.1:p.Gln102His
NR_036448.1:n.634G>T
XM_005249447.3:c.267G>T	XP_005249504.1:p.Gln89His
XM_011514936.1:c.216G>T	XP_011513238.1:p.Gln72His
XM_005249447.4:c.267G>T	XP_005249504.1:p.Gln89His
XM_011514936.3:c.216G>T	XP_011513238.1:p.Gln72His
NM_032122.5:c.306G>T MANE Select	NP_115498.2:p.Gln102His
NR_036448.2:n.604G>T
NM_001271667.2:c.63G>T	NP_001258596.1:p.Gln21His
NM_001271668.2:c.255G>T	NP_001258597.1:p.Gln85His
NM_001271669.2:c.201G>T	NP_001258598.1:p.Gln67His
NR_036448.3:n.604G>T