Canonical Allele Identifier: CA362869094

Gene: DTNBP1

Linked Data

• dbSNP Id: rs190232960
• gnomAD v4: 6-15627464-G-C
• MyVariant Identifiers: chr6:g.15627695G>C (hg19) ; chr6:g.15627464G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.15627464G>C , CM000668.2:g.15627464G>C	GRCh38
NC_000006.11:g.15627695G>C , CM000668.1:g.15627695G>C	GRCh37
NC_000006.10:g.15735674G>C	NCBI36
NG_009309.1:g.40577C>G , LRG_588:g.40577C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344537.10:c.234C>G MANE Select	ENSP00000341680.6:p.Ser78Arg
ENST00000338950.9:c.234C>G	ENSP00000344718.5:p.Ser78Arg
ENST00000344537.9:c.234C>G	ENSP00000341680.5:p.Ser78Arg
ENST00000355917.7:c.183C>G	ENSP00000348183.4:p.Ser61Arg
ENST00000506844.1:c.*232C>G	ENSP00000424202.1:n.*232C>G
ENST00000510395.5:c.*144C>G	ENSP00000424685.1:n.*144C>G
ENST00000511762.2:c.129C>G	ENSP00000427473.2:p.Ser43Arg
ENST00000513680.5:c.*232C>G	ENSP00000424357.1:n.*232C>G
ENST00000515875.5:c.183C>G	ENSP00000425495.1:p.Ser61Arg
ENST00000622898.4:c.129C>G	ENSP00000481997.1:p.Ser43Arg
NM_001271667.1:c.-10C>G	NP_001258596.1:n.-10C>G
NM_001271668.1:c.183C>G	NP_001258597.1:p.Ser61Arg
NM_001271669.1:c.129C>G	NP_001258598.1:p.Ser43Arg
NM_032122.4:c.234C>G , LRG_588t1:c.234C>G	NP_115498.2:p.Ser78Arg
NM_183040.2:c.234C>G , LRG_588t2:c.234C>G	NP_898861.1:p.Ser78Arg
NR_036448.1:n.562C>G
XM_005249447.3:c.195C>G	XP_005249504.1:p.Ser65Arg
XM_011514936.1:c.144C>G	XP_011513238.1:p.Ser48Arg
XM_005249447.4:c.195C>G	XP_005249504.1:p.Ser65Arg
XM_011514936.3:c.144C>G	XP_011513238.1:p.Ser48Arg
NM_032122.5:c.234C>G MANE Select	NP_115498.2:p.Ser78Arg
NR_036448.2:n.532C>G
NM_001271667.2:c.-10C>G	NP_001258596.1:n.-10C>G
NM_001271668.2:c.183C>G	NP_001258597.1:p.Ser61Arg
NM_001271669.2:c.129C>G	NP_001258598.1:p.Ser43Arg
NR_036448.3:n.532C>G