Canonical Allele Identifier: CA10627557

Gene: DSP DSP-AS1

Linked Data

• ClinVar Variation Id: 357929
• ClinVar RCV Id: RCV000267663 ; RCV000284763 ; RCV000322798 ; RCV000377463
• dbSNP Id: rs886061738
• gnomAD v4: 6-7541656-A-G
• MyVariant Identifiers: chr6:g.7541889A>G (hg19) ; chr6:g.7541656A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7541656A>G , CM000668.2:g.7541656A>G	GRCh38
NC_000006.11:g.7541889A>G , CM000668.1:g.7541889A>G	GRCh37
NC_000006.10:g.7486888A>G	NCBI36
NG_008803.1:g.5020A>G , LRG_423:g.5020A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710359.1:c.-260A>G (DSP)	ENSP00000518230.1:n.-260A>G
ENST00000379802.7:c.-260A>G (DSP)	ENSP00000369129.3:n.-260A>G
ENST00000418664.2:c.-260A>G (DSP)	ENSP00000396591.2:n.-260A>G
NM_001008844.1:c.-260A>G (DSP)	NP_001008844.1:n.-260A>G
NM_004415.2:c.-260A>G , LRG_423t1:c.-260A>G (DSP)	NP_004406.2:n.-260A>G
XM_011514323.1:c.-260A>G (DSP)	XP_011512625.1:n.-260A>G
XR_241971.2:n.269-603T>C (DSP-AS1)
NM_001008844.2:c.-260A>G (DSP)	NP_001008844.1:n.-260A>G
NM_001319034.1:c.-260A>G (DSP)	NP_001305963.1:n.-260A>G
NM_004415.3:c.-260A>G (DSP)	NP_004406.2:n.-260A>G
XR_241970.4:n.71T>C (DSP-AS1)
XR_241971.3:n.270-603T>C (DSP-AS1)