Canonical Allele Identifier: CA004575
Gene: DSP HGNC NCBI

Linked Data

ClinVar Variation Id: 161227
ClinVar RCV Id: RCV000148479 RCV000215521 RCV000460497 RCV000677333 RCV000764660 RCV000766884 RCV001192114 RCV001332447
dbSNP Id: rs34738426
ExAC: 6:7581747 G / T
gnomAD v2: 6-7581747-G-T
gnomAD v3: 6-7581514-G-T
gnomAD v4: 6-7581514-G-T
MyVariant Identifiers: chr6:g.7581747G>T (hg19) chr6:g.7581514G>T (hg38)
PubMed: PMID:15941723 PMID:23861362
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.7581514G>T , CM000668.2:g.7581514G>T GRCh38
NC_000006.11:g.7581747G>T , CM000668.1:g.7581747G>T GRCh37
NC_000006.10:g.7526746G>T NCBI36
NG_008803.1:g.44878G>T , LRG_423:g.44878G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000710359.1:c.4051-1128G>T ENSP00000518230.1:n.4051-1128G>T
ENST00000379802.8:c.5324G>T MANE Select ENSP00000369129.3:p.Arg1775Ile
ENST00000379802.7:c.5324G>T ENSP00000369129.3:p.Arg1775Ile
ENST00000418664.2:c.3583-1128G>T ENSP00000396591.2:n.3583-1128G>T
NM_001008844.1:c.3583-1128G>T NP_001008844.1:n.3583-1128G>T
NM_004415.2:c.5324G>T , LRG_423t1:c.5324G>T NP_004406.2:p.Arg1775Ile
XM_011514323.1:c.4051-1128G>T XP_011512625.1:n.4051-1128G>T
NM_001008844.2:c.3583-1128G>T NP_001008844.1:n.3583-1128G>T
NM_001319034.1:c.4051-1128G>T NP_001305963.1:n.4051-1128G>T
NM_004415.3:c.5324G>T NP_004406.2:p.Arg1775Ile
NM_004415.4:c.5324G>T MANE Select NP_004406.2:p.Arg1775Ile
NM_001008844.3:c.3583-1128G>T NP_001008844.1:n.3583-1128G>T
NM_001319034.2:c.4051-1128G>T NP_001305963.1:n.4051-1128G>T
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