Canonical Allele Identifier: CA362694003

Gene: DSP

Linked Data

• ClinVar Variation Id: 926585
• ClinVar RCV Id: RCV001189263 ; RCV002464407
• dbSNP Id: rs1759604036
• MyVariant Identifiers: chr6:g.7585386A>G (hg19) ; chr6:g.7585153A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7585153A>G , CM000668.2:g.7585153A>G	GRCh38
NC_000006.11:g.7585386A>G , CM000668.1:g.7585386A>G	GRCh37
NC_000006.10:g.7530385A>G	NCBI36
NG_008803.1:g.48517A>G , LRG_423:g.48517A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710359.1:c.6562A>G	ENSP00000518230.1:p.Ile2188Val
ENST00000379802.8:c.7891A>G MANE Select	ENSP00000369129.3:p.Ile2631Val
ENST00000379802.7:c.7891A>G	ENSP00000369129.3:p.Ile2631Val
ENST00000418664.2:c.6094A>G	ENSP00000396591.2:p.Ile2032Val
NM_001008844.1:c.6094A>G	NP_001008844.1:p.Ile2032Val
NM_004415.2:c.7891A>G , LRG_423t1:c.7891A>G	NP_004406.2:p.Ile2631Val
XM_011514323.1:c.6562A>G	XP_011512625.1:p.Ile2188Val
NM_001008844.2:c.6094A>G	NP_001008844.1:p.Ile2032Val
NM_001319034.1:c.6562A>G	NP_001305963.1:p.Ile2188Val
NM_004415.3:c.7891A>G	NP_004406.2:p.Ile2631Val
NM_004415.4:c.7891A>G MANE Select	NP_004406.2:p.Ile2631Val
NM_001008844.3:c.6094A>G	NP_001008844.1:p.Ile2032Val
NM_001319034.2:c.6562A>G	NP_001305963.1:p.Ile2188Val