Canonical Allele Identifier: CA004756

Gene: DSP DSP-AS1

Linked Data

• ClinVar Variation Id: 36016
• ClinVar RCV Id: RCV000029675 ; RCV000037983 ; RCV000271030 ; RCV000227163 ; RCV000330639 ; RCV000387490 ; RCV001084479 ; RCV002496451
• dbSNP Id: rs77445784
• ExAC: 6:7542253 G / A
• gnomAD v2: 6-7542253-G-A
• gnomAD v3: 6-7542020-G-A
• gnomAD v4: 6-7542020-G-A
• MyVariant Identifiers: chr6:g.7542253G>A (hg19) ; chr6:g.7542020G>A (hg38)
• PubMed: PMID:21606396

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7542020G>A , CM000668.2:g.7542020G>A	GRCh38
NC_000006.11:g.7542253G>A , CM000668.1:g.7542253G>A	GRCh37
NC_000006.10:g.7487252G>A	NCBI36
NG_008803.1:g.5384G>A , LRG_423:g.5384G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683682.2:c.105G>A (DSP)	ENSP00000508162.2:p.Gly35=
ENST00000710359.1:c.105G>A (DSP)	ENSP00000518230.1:p.Gly35=
ENST00000379802.8:c.105G>A (DSP) MANE Select	ENSP00000369129.3:p.Gly35=
ENST00000379802.7:c.105G>A (DSP)	ENSP00000369129.3:p.Gly35=
ENST00000418664.2:c.105G>A (DSP)	ENSP00000396591.2:p.Gly35=
NM_001008844.1:c.105G>A (DSP)	NP_001008844.1:p.Gly35=
NM_004415.2:c.105G>A , LRG_423t1:c.105G>A (DSP)	NP_004406.2:p.Gly35=
XM_011514323.1:c.105G>A (DSP)	XP_011512625.1:p.Gly35=
XR_241971.2:n.268+751C>T (DSP-AS1)
NM_001008844.2:c.105G>A (DSP)	NP_001008844.1:p.Gly35=
NM_001319034.1:c.105G>A (DSP)	NP_001305963.1:p.Gly35=
NM_004415.3:c.105G>A (DSP)	NP_004406.2:p.Gly35=
XR_241971.3:n.269+751C>T (DSP-AS1)
NM_004415.4:c.105G>A (DSP) MANE Select	NP_004406.2:p.Gly35=
NM_001008844.3:c.105G>A (DSP)	NP_001008844.1:p.Gly35=
NM_001319034.2:c.105G>A (DSP)	NP_001305963.1:p.Gly35=