Canonical Allele Identifier: CA448715506

Gene: DSP

Linked Data

• ClinVar Variation Id: 1749340
• ClinVar RCV Id: RCV002347740 ; RCV004005701
• dbSNP Id: rs1439469699
• gnomAD v2: 6-7583228-G-A
• gnomAD v4: 6-7582995-G-A
• MyVariant Identifiers: chr6:g.7583228G>A (hg19) ; chr6:g.7582995G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7582995G>A , CM000668.2:g.7582995G>A	GRCh38
NC_000006.11:g.7583228G>A , CM000668.1:g.7583228G>A	GRCh37
NC_000006.10:g.7528227G>A	NCBI36
NG_008803.1:g.46359G>A , LRG_423:g.46359G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710359.1:c.4404G>A	ENSP00000518230.1:p.Glu1468=
ENST00000379802.8:c.5733G>A MANE Select	ENSP00000369129.3:p.Glu1911=
ENST00000379802.7:c.5733G>A	ENSP00000369129.3:p.Glu1911=
ENST00000418664.2:c.3936G>A	ENSP00000396591.2:p.Glu1312=
NM_001008844.1:c.3936G>A	NP_001008844.1:p.Glu1312=
NM_004415.2:c.5733G>A , LRG_423t1:c.5733G>A	NP_004406.2:p.Glu1911=
XM_011514323.1:c.4404G>A	XP_011512625.1:p.Glu1468=
NM_001008844.2:c.3936G>A	NP_001008844.1:p.Glu1312=
NM_001319034.1:c.4404G>A	NP_001305963.1:p.Glu1468=
NM_004415.3:c.5733G>A	NP_004406.2:p.Glu1911=
NM_004415.4:c.5733G>A MANE Select	NP_004406.2:p.Glu1911=
NM_001008844.3:c.3936G>A	NP_001008844.1:p.Glu1312=
NM_001319034.2:c.4404G>A	NP_001305963.1:p.Glu1468=