Canonical Allele Identifier: CA362692444

Gene: DSP

Linked Data

• ClinVar Variation Id: 3070945
• ClinVar RCV Id: RCV004014447
• MyVariant Identifiers: chr6:g.7584689T>A (hg19) ; chr6:g.7584456T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7584456T>A , CM000668.2:g.7584456T>A	GRCh38
NC_000006.11:g.7584689T>A , CM000668.1:g.7584689T>A	GRCh37
NC_000006.10:g.7529688T>A	NCBI36
NG_008803.1:g.47820T>A , LRG_423:g.47820T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710359.1:c.5865T>A	ENSP00000518230.1:p.Asn1955Lys
ENST00000379802.8:c.7194T>A MANE Select	ENSP00000369129.3:p.Asn2398Lys
ENST00000379802.7:c.7194T>A	ENSP00000369129.3:p.Asn2398Lys
ENST00000418664.2:c.5397T>A	ENSP00000396591.2:p.Asn1799Lys
NM_001008844.1:c.5397T>A	NP_001008844.1:p.Asn1799Lys
NM_004415.2:c.7194T>A , LRG_423t1:c.7194T>A	NP_004406.2:p.Asn2398Lys
XM_011514323.1:c.5865T>A	XP_011512625.1:p.Asn1955Lys
NM_001008844.2:c.5397T>A	NP_001008844.1:p.Asn1799Lys
NM_001319034.1:c.5865T>A	NP_001305963.1:p.Asn1955Lys
NM_004415.3:c.7194T>A	NP_004406.2:p.Asn2398Lys
NM_004415.4:c.7194T>A MANE Select	NP_004406.2:p.Asn2398Lys
NM_001008844.3:c.5397T>A	NP_001008844.1:p.Asn1799Lys
NM_001319034.2:c.5865T>A	NP_001305963.1:p.Asn1955Lys