Canonical Allele Identifier: CA004241

Gene: DSP

Linked Data

• ClinVar Variation Id: 191640
• ClinVar RCV Id: RCV000171917 ; RCV001788057 ; RCV002478548 ; RCV002515256 ; RCV003995667
• dbSNP Id: rs786205416
• gnomAD v3: 6-7581204-C-G
• gnomAD v4: 6-7581204-C-G
• MyVariant Identifiers: chr6:g.7581437C>G (hg19) ; chr6:g.7581204C>G (hg38)
• PubMed: PMID:23861362

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7581204C>G , CM000668.2:g.7581204C>G	GRCh38
NC_000006.11:g.7581437C>G , CM000668.1:g.7581437C>G	GRCh37
NC_000006.10:g.7526436C>G	NCBI36
NG_008803.1:g.44568C>G , LRG_423:g.44568C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710359.1:c.4050+964C>G	ENSP00000518230.1:n.4050+964C>G
ENST00000379802.8:c.5014C>G MANE Select	ENSP00000369129.3:p.Gln1672Glu
ENST00000379802.7:c.5014C>G	ENSP00000369129.3:p.Gln1672Glu
ENST00000418664.2:c.3582+1432C>G	ENSP00000396591.2:n.3582+1432C>G
NM_001008844.1:c.3582+1432C>G	NP_001008844.1:n.3582+1432C>G
NM_004415.2:c.5014C>G , LRG_423t1:c.5014C>G	NP_004406.2:p.Gln1672Glu
XM_011514323.1:c.4050+964C>G	XP_011512625.1:n.4050+964C>G
NM_001008844.2:c.3582+1432C>G	NP_001008844.1:n.3582+1432C>G
NM_001319034.1:c.4050+964C>G	NP_001305963.1:n.4050+964C>G
NM_004415.3:c.5014C>G	NP_004406.2:p.Gln1672Glu
NM_004415.4:c.5014C>G MANE Select	NP_004406.2:p.Gln1672Glu
NM_001008844.3:c.3582+1432C>G	NP_001008844.1:n.3582+1432C>G
NM_001319034.2:c.4050+964C>G	NP_001305963.1:n.4050+964C>G