Canonical Allele Identifier: CA039305

Gene: DSP

Linked Data

• ClinVar Variation Id: 629391
• ClinVar RCV Id: RCV000774096 ; RCV002487583 ; RCV002534115 ; RCV004001350 ; RCV004027263
• dbSNP Id: rs746482538
• ExAC: 6:7580286 A / G
• gnomAD v2: 6-7580286-A-G
• gnomAD v3: 6-7580053-A-G
• gnomAD v4: 6-7580053-A-G
• MyVariant Identifiers: chr6:g.7580286A>G (hg19) ; chr6:g.7580053A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7580053A>G , CM000668.2:g.7580053A>G	GRCh38
NC_000006.11:g.7580286A>G , CM000668.1:g.7580286A>G	GRCh37
NC_000006.10:g.7525285A>G	NCBI36
NG_008803.1:g.43417A>G , LRG_423:g.43417A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710359.1:c.3863A>G	ENSP00000518230.1:p.Lys1288Arg
ENST00000379802.8:c.3863A>G MANE Select	ENSP00000369129.3:p.Lys1288Arg
ENST00000379802.7:c.3863A>G	ENSP00000369129.3:p.Lys1288Arg
ENST00000418664.2:c.3582+281A>G	ENSP00000396591.2:n.3582+281A>G
NM_001008844.1:c.3582+281A>G	NP_001008844.1:n.3582+281A>G
NM_004415.2:c.3863A>G , LRG_423t1:c.3863A>G	NP_004406.2:p.Lys1288Arg
XM_011514323.1:c.3863A>G	XP_011512625.1:p.Lys1288Arg
NM_001008844.2:c.3582+281A>G	NP_001008844.1:n.3582+281A>G
NM_001319034.1:c.3863A>G	NP_001305963.1:p.Lys1288Arg
NM_004415.3:c.3863A>G	NP_004406.2:p.Lys1288Arg
NM_004415.4:c.3863A>G MANE Select	NP_004406.2:p.Lys1288Arg
NM_001008844.3:c.3582+281A>G	NP_001008844.1:n.3582+281A>G
NM_001319034.2:c.3863A>G	NP_001305963.1:p.Lys1288Arg