Canonical Allele Identifier: CA047042

Gene: DSP DSP-AS1

Linked Data

• ClinVar Variation Id: 465903
• ClinVar RCV Id: RCV000530910 ; RCV000619337 ; RCV002253507 ; RCV001177348 ; RCV003999175
• dbSNP Id: rs747956457
• ExAC: 6:7542209 G / A
• gnomAD v2: 6-7542209-G-A
• gnomAD v4: 6-7541976-G-A
• MyVariant Identifiers: chr6:g.7542209G>A (hg19) ; chr6:g.7541976G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7541976G>A , CM000668.2:g.7541976G>A	GRCh38
NC_000006.11:g.7542209G>A , CM000668.1:g.7542209G>A	GRCh37
NC_000006.10:g.7487208G>A	NCBI36
NG_008803.1:g.5340G>A , LRG_423:g.5340G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683682.2:c.61G>A (DSP)	ENSP00000508162.2:p.Glu21Lys
ENST00000710359.1:c.61G>A (DSP)	ENSP00000518230.1:p.Glu21Lys
ENST00000379802.8:c.61G>A (DSP) MANE Select	ENSP00000369129.3:p.Glu21Lys
ENST00000379802.7:c.61G>A (DSP)	ENSP00000369129.3:p.Glu21Lys
ENST00000418664.2:c.61G>A (DSP)	ENSP00000396591.2:p.Glu21Lys
NM_001008844.1:c.61G>A (DSP)	NP_001008844.1:p.Glu21Lys
NM_004415.2:c.61G>A , LRG_423t1:c.61G>A (DSP)	NP_004406.2:p.Glu21Lys
XM_011514323.1:c.61G>A (DSP)	XP_011512625.1:p.Glu21Lys
XR_241971.2:n.268+795C>T (DSP-AS1)
NM_001008844.2:c.61G>A (DSP)	NP_001008844.1:p.Glu21Lys
NM_001319034.1:c.61G>A (DSP)	NP_001305963.1:p.Glu21Lys
NM_004415.3:c.61G>A (DSP)	NP_004406.2:p.Glu21Lys
XR_241971.3:n.269+795C>T (DSP-AS1)
NM_004415.4:c.61G>A (DSP) MANE Select	NP_004406.2:p.Glu21Lys
NM_001008844.3:c.61G>A (DSP)	NP_001008844.1:p.Glu21Lys
NM_001319034.2:c.61G>A (DSP)	NP_001305963.1:p.Glu21Lys