Canonical Allele Identifier: CA362868935

Gene: DTNBP1

Linked Data

• gnomAD v4: 6-15627393-T-C
• MyVariant Identifiers: chr6:g.15627624T>C (hg19) ; chr6:g.15627393T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.15627393T>C , CM000668.2:g.15627393T>C	GRCh38
NC_000006.11:g.15627624T>C , CM000668.1:g.15627624T>C	GRCh37
NC_000006.10:g.15735603T>C	NCBI36
NG_009309.1:g.40648A>G , LRG_588:g.40648A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000344537.10:c.305A>G MANE Select	ENSP00000341680.6:p.Gln102Arg
ENST00000338950.9:c.305A>G	ENSP00000344718.5:p.Gln102Arg
ENST00000344537.9:c.305A>G	ENSP00000341680.5:p.Gln102Arg
ENST00000355917.7:c.254A>G	ENSP00000348183.4:p.Gln85Arg
ENST00000506844.1:c.*303A>G	ENSP00000424202.1:n.*303A>G
ENST00000510395.5:c.*215A>G	ENSP00000424685.1:n.*215A>G
ENST00000511762.2:c.200A>G	ENSP00000427473.2:p.Gln67Arg
ENST00000513680.5:c.*303A>G	ENSP00000424357.1:n.*303A>G
ENST00000515875.5:c.254A>G	ENSP00000425495.1:p.Gln85Arg
ENST00000622898.4:c.200A>G	ENSP00000481997.1:p.Gln67Arg
NM_001271667.1:c.62A>G	NP_001258596.1:p.Gln21Arg
NM_001271668.1:c.254A>G	NP_001258597.1:p.Gln85Arg
NM_001271669.1:c.200A>G	NP_001258598.1:p.Gln67Arg
NM_032122.4:c.305A>G , LRG_588t1:c.305A>G	NP_115498.2:p.Gln102Arg
NM_183040.2:c.305A>G , LRG_588t2:c.305A>G	NP_898861.1:p.Gln102Arg
NR_036448.1:n.633A>G
XM_005249447.3:c.266A>G	XP_005249504.1:p.Gln89Arg
XM_011514936.1:c.215A>G	XP_011513238.1:p.Gln72Arg
XM_005249447.4:c.266A>G	XP_005249504.1:p.Gln89Arg
XM_011514936.3:c.215A>G	XP_011513238.1:p.Gln72Arg
NM_032122.5:c.305A>G MANE Select	NP_115498.2:p.Gln102Arg
NR_036448.2:n.603A>G
NM_001271667.2:c.62A>G	NP_001258596.1:p.Gln21Arg
NM_001271668.2:c.254A>G	NP_001258597.1:p.Gln85Arg
NM_001271669.2:c.200A>G	NP_001258598.1:p.Gln67Arg
NR_036448.3:n.603A>G