Canonical Allele Identifier: CA007748

Gene: DSP

Linked Data

• ClinVar Variation Id: 137173
• ClinVar RCV Id: RCV000202956 ; RCV000172750 ; RCV000400542 ; RCV000342233 ; RCV001080914 ; RCV001095160 ; RCV000247844 ; RCV001812025 ; RCV002492463 ; RCV000770253 ; RCV000853001
• dbSNP Id: rs28763971
• ExAC: 6:7586100 A / G
• gnomAD v2: 6-7586100-A-G
• gnomAD v3: 6-7585867-A-G
• gnomAD v4: 6-7585867-A-G
• MyVariant Identifiers: chr6:g.7586100A>G (hg19) ; chr6:g.7585867A>G (hg38)
• PubMed: PMID:23861362 ; PMID:24125834

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7585867A>G , CM000668.2:g.7585867A>G	GRCh38
NC_000006.11:g.7586100A>G , CM000668.1:g.7586100A>G	GRCh37
NC_000006.10:g.7531099A>G	NCBI36
NG_008803.1:g.49231A>G , LRG_423:g.49231A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710359.1:c.7276A>G	ENSP00000518230.1:p.Ile2426Val
ENST00000379802.8:c.8605A>G MANE Select	ENSP00000369129.3:p.Ile2869Val
ENST00000379802.7:c.8605A>G	ENSP00000369129.3:p.Ile2869Val
ENST00000418664.2:c.6808A>G	ENSP00000396591.2:p.Ile2270Val
NM_001008844.1:c.6808A>G	NP_001008844.1:p.Ile2270Val
NM_004415.2:c.8605A>G , LRG_423t1:c.8605A>G	NP_004406.2:p.Ile2869Val
XM_011514323.1:c.7276A>G	XP_011512625.1:p.Ile2426Val
NM_001008844.2:c.6808A>G	NP_001008844.1:p.Ile2270Val
NM_001319034.1:c.7276A>G	NP_001305963.1:p.Ile2426Val
NM_004415.3:c.8605A>G	NP_004406.2:p.Ile2869Val
NM_004415.4:c.8605A>G MANE Select	NP_004406.2:p.Ile2869Val
NM_001008844.3:c.6808A>G	NP_001008844.1:p.Ile2270Val
NM_001319034.2:c.7276A>G	NP_001305963.1:p.Ile2426Val