Canonical Allele Identifier: CA004763
Gene: DSP HGNC NCBI

Linked Data

ClinVar Variation Id: 199858
ClinVar RCV Id: RCV000414775 RCV000590097 RCV000816725 RCV001190479 RCV001198235 RCV002408784 RCV002485188 RCV003996641
dbSNP Id: rs780626687
gnomAD v2: 6-7567609-C-A
gnomAD v3: 6-7567376-C-A
gnomAD v4: 6-7567376-C-A
MyVariant Identifiers: chr6:g.7567609C>A (hg19) chr6:g.7567376C>A (hg38)
PubMed: PMID:25227139 PMID:26399581
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.7567376C>A , CM000668.2:g.7567376C>A GRCh38
NC_000006.11:g.7567609C>A , CM000668.1:g.7567609C>A GRCh37
NC_000006.10:g.7512608C>A NCBI36
NG_008803.1:g.30740C>A , LRG_423:g.30740C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000710359.1:c.1067C>A ENSP00000518230.1:p.Thr356Lys
ENST00000682228.1:n.391C>A
ENST00000379802.8:c.1067C>A MANE Select ENSP00000369129.3:p.Thr356Lys
ENST00000379802.7:c.1067C>A ENSP00000369129.3:p.Thr356Lys
ENST00000418664.2:c.1067C>A ENSP00000396591.2:p.Thr356Lys
NM_001008844.1:c.1067C>A NP_001008844.1:p.Thr356Lys
NM_004415.2:c.1067C>A , LRG_423t1:c.1067C>A NP_004406.2:p.Thr356Lys
XM_011514323.1:c.1067C>A XP_011512625.1:p.Thr356Lys
NM_001008844.2:c.1067C>A NP_001008844.1:p.Thr356Lys
NM_001319034.1:c.1067C>A NP_001305963.1:p.Thr356Lys
NM_004415.3:c.1067C>A NP_004406.2:p.Thr356Lys
NM_004415.4:c.1067C>A MANE Select NP_004406.2:p.Thr356Lys
NM_001008844.3:c.1067C>A NP_001008844.1:p.Thr356Lys
NM_001319034.2:c.1067C>A NP_001305963.1:p.Thr356Lys
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