Canonical Allele Identifier: CA052184

Gene: DSP

Linked Data

• ClinVar Variation Id: 1130660
• ClinVar RCV Id: RCV001464237 ; RCV004007094
• dbSNP Id: rs372909009
• ExAC: 6:7585886 C / A
• gnomAD v2: 6-7585886-C-A
• gnomAD v4: 6-7585653-C-A
• MyVariant Identifiers: chr6:g.7585886C>A (hg19) ; chr6:g.7585653C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7585653C>A , CM000668.2:g.7585653C>A	GRCh38
NC_000006.11:g.7585886C>A , CM000668.1:g.7585886C>A	GRCh37
NC_000006.10:g.7530885C>A	NCBI36
NG_008803.1:g.49017C>A , LRG_423:g.49017C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710359.1:c.7062C>A	ENSP00000518230.1:p.Ile2354=
ENST00000379802.8:c.8391C>A MANE Select	ENSP00000369129.3:p.Ile2797=
ENST00000379802.7:c.8391C>A	ENSP00000369129.3:p.Ile2797=
ENST00000418664.2:c.6594C>A	ENSP00000396591.2:p.Ile2198=
NM_001008844.1:c.6594C>A	NP_001008844.1:p.Ile2198=
NM_004415.2:c.8391C>A , LRG_423t1:c.8391C>A	NP_004406.2:p.Ile2797=
XM_011514323.1:c.7062C>A	XP_011512625.1:p.Ile2354=
NM_001008844.2:c.6594C>A	NP_001008844.1:p.Ile2198=
NM_001319034.1:c.7062C>A	NP_001305963.1:p.Ile2354=
NM_004415.3:c.8391C>A	NP_004406.2:p.Ile2797=
NM_004415.4:c.8391C>A MANE Select	NP_004406.2:p.Ile2797=
NM_001008844.3:c.6594C>A	NP_001008844.1:p.Ile2198=
NM_001319034.2:c.7062C>A	NP_001305963.1:p.Ile2354=