Canonical Allele Identifier: CA004146

Gene: DSP

Linked Data

• ClinVar Variation Id: 44895
• ClinVar RCV Id: RCV000038030 ; RCV000589193 ; RCV000617930 ; RCV000771834 ; RCV001081739 ; RCV003964856
• dbSNP Id: rs141120358
• ExAC: 6:7580119 C / A
• gnomAD v2: 6-7580119-C-A
• gnomAD v3: 6-7579886-C-A
• gnomAD v4: 6-7579886-C-A
• MyVariant Identifiers: chr6:g.7580119C>A (hg19) ; chr6:g.7579886C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7579886C>A , CM000668.2:g.7579886C>A	GRCh38
NC_000006.11:g.7580119C>A , CM000668.1:g.7580119C>A	GRCh37
NC_000006.10:g.7525118C>A	NCBI36
NG_008803.1:g.43250C>A , LRG_423:g.43250C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710359.1:c.3696C>A	ENSP00000518230.1:p.Ser1232=
ENST00000379802.8:c.3696C>A MANE Select	ENSP00000369129.3:p.Ser1232=
ENST00000379802.7:c.3696C>A	ENSP00000369129.3:p.Ser1232=
ENST00000418664.2:c.3582+114C>A	ENSP00000396591.2:n.3582+114C>A
NM_001008844.1:c.3582+114C>A	NP_001008844.1:n.3582+114C>A
NM_004415.2:c.3696C>A , LRG_423t1:c.3696C>A	NP_004406.2:p.Ser1232=
XM_011514323.1:c.3696C>A	XP_011512625.1:p.Ser1232=
NM_001008844.2:c.3582+114C>A	NP_001008844.1:n.3582+114C>A
NM_001319034.1:c.3696C>A	NP_001305963.1:p.Ser1232=
NM_004415.3:c.3696C>A	NP_004406.2:p.Ser1232=
NM_004415.4:c.3696C>A MANE Select	NP_004406.2:p.Ser1232=
NM_001008844.3:c.3582+114C>A	NP_001008844.1:n.3582+114C>A
NM_001319034.2:c.3696C>A	NP_001305963.1:p.Ser1232=