Canonical Allele Identifier: CA2573140933

Gene: DSP

Linked Data

• ClinVar Variation Id: 1631177
• ClinVar RCV Id: RCV002128028
• dbSNP Id: rs2113672635
• gnomAD v4: 6-7567469-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7567469A>G , CM000668.2:g.7567469A>G	GRCh38
NC_000006.11:g.7567702A>G , CM000668.1:g.7567702A>G	GRCh37
NC_000006.10:g.7512701A>G	NCBI36
NG_008803.1:g.30833A>G , LRG_423:g.30833A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710359.1:c.1140+20A>G	ENSP00000518230.1:n.1140+20A>G
ENST00000682228.1:n.484A>G
ENST00000379802.8:c.1140+20A>G MANE Select	ENSP00000369129.3:n.1140+20A>G
ENST00000379802.7:c.1140+20A>G	ENSP00000369129.3:n.1140+20A>G
ENST00000418664.2:c.1140+20A>G	ENSP00000396591.2:n.1140+20A>G
NM_001008844.1:c.1140+20A>G	NP_001008844.1:n.1140+20A>G
NM_004415.2:c.1140+20A>G , LRG_423t1:c.1140+20A>G	NP_004406.2:n.1140+20A>G
XM_011514323.1:c.1140+20A>G	XP_011512625.1:n.1140+20A>G
NM_001008844.2:c.1140+20A>G	NP_001008844.1:n.1140+20A>G
NM_001319034.1:c.1140+20A>G	NP_001305963.1:n.1140+20A>G
NM_004415.3:c.1140+20A>G	NP_004406.2:n.1140+20A>G
NM_004415.4:c.1140+20A>G MANE Select	NP_004406.2:n.1140+20A>G
NM_001008844.3:c.1140+20A>G	NP_001008844.1:n.1140+20A>G
NM_001319034.2:c.1140+20A>G	NP_001305963.1:n.1140+20A>G