Canonical Allele Identifier: CA9843048

Gene: DSN1

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.36771156T>C , CM000682.2:g.36771156T>C	GRCh38
NC_000020.10:g.35399559T>C , CM000682.1:g.35399559T>C	GRCh37
NC_000020.9:g.34832973T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_001145315.2:c.72A>G MANE Select	NP_001138787.1:p.Gln24=
ENST00000373750.9:c.72A>G MANE Select	ENSP00000362855.4:p.Gln24=
NM_001145315.1:c.72A>G	NP_001138787.1:p.Gln24=
NM_001145316.1:c.72A>G	NP_001138788.1:p.Gln24=
NM_001145316.2:c.72A>G	NP_001138788.1:p.Gln24=
NM_001145317.1:c.34+269A>G	NP_001138789.1:n.34+269A>G
NM_001145317.2:c.34+269A>G	NP_001138789.1:n.34+269A>G
NM_001145318.1:c.24A>G	NP_001138790.1:p.Gln8=
NM_001145318.2:c.24A>G	NP_001138790.1:p.Gln8=
NM_024918.3:c.72A>G	NP_079194.3:p.Gln24=
NM_024918.4:c.72A>G	NP_079194.3:p.Gln24=
ENST00000373734.8:c.34+269A>G	ENSP00000362839.4:n.34+269A>G
ENST00000373740.7:c.35-179A>G	ENSP00000362845.3:n.35-179A>G
ENST00000373750.8:c.72A>G	ENSP00000362855.4:p.Gln24=
ENST00000426836.5:c.72A>G	ENSP00000389810.1:p.Gln24=
ENST00000438549.5:c.-97-132A>G	ENSP00000395760.1:n.-97-132A>G
ENST00000447406.1:c.72A>G	ENSP00000399654.1:p.Gln24=
ENST00000448110.6:c.24A>G	ENSP00000404463.1:p.Gln8=
ENST00000473615.5:n.223A>G
ENST00000480153.5:n.455A>G
ENST00000492703.1:n.356+2238A>G
XM_006723876.1:c.34+269A>G	XP_006723939.1:n.34+269A>G
XM_006723876.2:c.34+269A>G	XP_006723939.1:n.34+269A>G
XM_017028070.1:c.72A>G	XP_016883559.1:p.Gln24=
XM_017028071.1:c.72A>G	XP_016883560.1:p.Gln24=
XM_017028072.1:c.24A>G	XP_016883561.1:p.Gln8=