Canonical Allele Identifier: CA007483

Gene: DSP

Linked Data

• ClinVar Variation Id: 191645
• ClinVar RCV Id: RCV000171923 ; RCV002433746
• dbSNP Id: rs786205417
• MyVariant Identifiers: chr6:g.7585842A>G (hg19) ; chr6:g.7585609A>G (hg38)
• PubMed: PMID:23861362

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7585609A>G , CM000668.2:g.7585609A>G	GRCh38
NC_000006.11:g.7585842A>G , CM000668.1:g.7585842A>G	GRCh37
NC_000006.10:g.7530841A>G	NCBI36
NG_008803.1:g.48973A>G , LRG_423:g.48973A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710359.1:c.7018A>G	ENSP00000518230.1:p.Ile2340Val
ENST00000379802.8:c.8347A>G MANE Select	ENSP00000369129.3:p.Ile2783Val
ENST00000379802.7:c.8347A>G	ENSP00000369129.3:p.Ile2783Val
ENST00000418664.2:c.6550A>G	ENSP00000396591.2:p.Ile2184Val
NM_001008844.1:c.6550A>G	NP_001008844.1:p.Ile2184Val
NM_004415.2:c.8347A>G , LRG_423t1:c.8347A>G	NP_004406.2:p.Ile2783Val
XM_011514323.1:c.7018A>G	XP_011512625.1:p.Ile2340Val
NM_001008844.2:c.6550A>G	NP_001008844.1:p.Ile2184Val
NM_001319034.1:c.7018A>G	NP_001305963.1:p.Ile2340Val
NM_004415.3:c.8347A>G	NP_004406.2:p.Ile2783Val
NM_004415.4:c.8347A>G MANE Select	NP_004406.2:p.Ile2783Val
NM_001008844.3:c.6550A>G	NP_001008844.1:p.Ile2184Val
NM_001319034.2:c.7018A>G	NP_001305963.1:p.Ile2340Val