Canonical Allele Identifier: CA032203

Gene: DSP DSP-AS1

Linked Data

• ClinVar Variation Id: 504990
• ClinVar RCV Id: RCV001805204 ; RCV002529312
• dbSNP Id: rs750532252
• ExAC: 6:7542169 C / T
• gnomAD v2: 6-7542169-C-T
• gnomAD v4: 6-7541936-C-T
• MyVariant Identifiers: chr6:g.7542169C>T (hg19) ; chr6:g.7541936C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7541936C>T , CM000668.2:g.7541936C>T	GRCh38
NC_000006.11:g.7542169C>T , CM000668.1:g.7542169C>T	GRCh37
NC_000006.10:g.7487168C>T	NCBI36
NG_008803.1:g.5300C>T , LRG_423:g.5300C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000683682.2:c.21C>T (DSP)	ENSP00000508162.2:p.Ser7=
ENST00000710359.1:c.21C>T (DSP)	ENSP00000518230.1:p.Ser7=
ENST00000379802.8:c.21C>T (DSP) MANE Select	ENSP00000369129.3:p.Ser7=
ENST00000379802.7:c.21C>T (DSP)	ENSP00000369129.3:p.Ser7=
ENST00000418664.2:c.21C>T (DSP)	ENSP00000396591.2:p.Ser7=
NM_001008844.1:c.21C>T (DSP)	NP_001008844.1:p.Ser7=
NM_004415.2:c.21C>T , LRG_423t1:c.21C>T (DSP)	NP_004406.2:p.Ser7=
XM_011514323.1:c.21C>T (DSP)	XP_011512625.1:p.Ser7=
XR_241971.2:n.268+835G>A (DSP-AS1)
NM_001008844.2:c.21C>T (DSP)	NP_001008844.1:p.Ser7=
NM_001319034.1:c.21C>T (DSP)	NP_001305963.1:p.Ser7=
NM_004415.3:c.21C>T (DSP)	NP_004406.2:p.Ser7=
XR_241971.3:n.269+835G>A (DSP-AS1)
NM_004415.4:c.21C>T (DSP) MANE Select	NP_004406.2:p.Ser7=
NM_001008844.3:c.21C>T (DSP)	NP_001008844.1:p.Ser7=
NM_001319034.2:c.21C>T (DSP)	NP_001305963.1:p.Ser7=