Canonical Allele Identifier: CA362689134

Gene: DSP

Linked Data

• ClinVar Variation Id: 2938816
• ClinVar RCV Id: RCV003799590 ; RCV004006049
• dbSNP Id: rs1445340832
• gnomAD v3: 6-7582926-T-A
• gnomAD v4: 6-7582926-T-A
• MyVariant Identifiers: chr6:g.7583159T>A (hg19) ; chr6:g.7582926T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7582926T>A , CM000668.2:g.7582926T>A	GRCh38
NC_000006.11:g.7583159T>A , CM000668.1:g.7583159T>A	GRCh37
NC_000006.10:g.7528158T>A	NCBI36
NG_008803.1:g.46290T>A , LRG_423:g.46290T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710359.1:c.4335T>A	ENSP00000518230.1:p.Ser1445Arg
ENST00000379802.8:c.5664T>A MANE Select	ENSP00000369129.3:p.Ser1888Arg
ENST00000379802.7:c.5664T>A	ENSP00000369129.3:p.Ser1888Arg
ENST00000418664.2:c.3867T>A	ENSP00000396591.2:p.Ser1289Arg
NM_001008844.1:c.3867T>A	NP_001008844.1:p.Ser1289Arg
NM_004415.2:c.5664T>A , LRG_423t1:c.5664T>A	NP_004406.2:p.Ser1888Arg
XM_011514323.1:c.4335T>A	XP_011512625.1:p.Ser1445Arg
NM_001008844.2:c.3867T>A	NP_001008844.1:p.Ser1289Arg
NM_001319034.1:c.4335T>A	NP_001305963.1:p.Ser1445Arg
NM_004415.3:c.5664T>A	NP_004406.2:p.Ser1888Arg
NM_004415.4:c.5664T>A MANE Select	NP_004406.2:p.Ser1888Arg
NM_001008844.3:c.3867T>A	NP_001008844.1:p.Ser1289Arg
NM_001319034.2:c.4335T>A	NP_001305963.1:p.Ser1445Arg