Canonical Allele Identifier: CA362693825

Gene: DSP

Linked Data

• ClinVar Variation Id: 465912
• ClinVar RCV Id: RCV000529574 ; RCV001190481
• dbSNP Id: rs1301635888
• gnomAD v2: 6-7585305-A-G
• gnomAD v3: 6-7585072-A-G
• gnomAD v4: 6-7585072-A-G
• MyVariant Identifiers: chr6:g.7585305A>G (hg19) ; chr6:g.7585072A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7585072A>G , CM000668.2:g.7585072A>G	GRCh38
NC_000006.11:g.7585305A>G , CM000668.1:g.7585305A>G	GRCh37
NC_000006.10:g.7530304A>G	NCBI36
NG_008803.1:g.48436A>G , LRG_423:g.48436A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000710359.1:c.6481A>G	ENSP00000518230.1:p.Ile2161Val
ENST00000379802.8:c.7810A>G MANE Select	ENSP00000369129.3:p.Ile2604Val
ENST00000379802.7:c.7810A>G	ENSP00000369129.3:p.Ile2604Val
ENST00000418664.2:c.6013A>G	ENSP00000396591.2:p.Ile2005Val
NM_001008844.1:c.6013A>G	NP_001008844.1:p.Ile2005Val
NM_004415.2:c.7810A>G , LRG_423t1:c.7810A>G	NP_004406.2:p.Ile2604Val
XM_011514323.1:c.6481A>G	XP_011512625.1:p.Ile2161Val
NM_001008844.2:c.6013A>G	NP_001008844.1:p.Ile2005Val
NM_001319034.1:c.6481A>G	NP_001305963.1:p.Ile2161Val
NM_004415.3:c.7810A>G	NP_004406.2:p.Ile2604Val
NM_004415.4:c.7810A>G MANE Select	NP_004406.2:p.Ile2604Val
NM_001008844.3:c.6013A>G	NP_001008844.1:p.Ile2005Val
NM_001319034.2:c.6481A>G	NP_001305963.1:p.Ile2161Val