Canonical Allele Identifier: CA005492
Gene: DSP HGNC NCBI
ClinVar RCV:
RCV000157192
RCV000171390
RCV000777747
RCV001243440
RCV001293120
RCV002433646
RCV002478423
RCV003998198
ClinVar Variation:
163257
dbSNP:
367752002
gnomAD v2:
6:7576580 A / G
gnomAD v3:
6:7576347 A / G
gnomAD v4:
chr6-7576347-A-G
Joint Max Group AF 0.00114252 (MID)
Genomes Max Group AF 0.00003762 (NFE)
Exomes Max Group AF 0.00106932 (MID)
MyVariant.info:
GRCh38 chr6:g.7576347A>G
GRCh37 chr6:g.7576580A>G
Revel Score:
ENST00000379802 (MANE Select) 0.212
ENST00000418664 0.212
ENST00000397483 0.212
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.7576347A>G , CM000668.2:g.7576347A>G GRCh38
NC_000006.11:g.7576580A>G , CM000668.1:g.7576580A>G GRCh37
NC_000006.10:g.7521579A>G NCBI36
NG_008803.1:g.39711A>G , LRG_423:g.39711A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000710359.1:c.2684A>G ENSP00000518230.1:p.Tyr895Cys
ENST00000379802.8:c.2684A>G MANE Select ENSP00000369129.3:p.Tyr895Cys
ENST00000379802.7:c.2684A>G ENSP00000369129.3:p.Tyr895Cys
ENST00000418664.2:c.2684A>G ENSP00000396591.2:p.Tyr895Cys
NM_001008844.1:c.2684A>G NP_001008844.1:p.Tyr895Cys
NM_004415.2:c.2684A>G , LRG_423t1:c.2684A>G NP_004406.2:p.Tyr895Cys
XM_011514323.1:c.2684A>G XP_011512625.1:p.Tyr895Cys
NM_001008844.2:c.2684A>G NP_001008844.1:p.Tyr895Cys
NM_001319034.1:c.2684A>G NP_001305963.1:p.Tyr895Cys
NM_004415.3:c.2684A>G NP_004406.2:p.Tyr895Cys
NM_004415.4:c.2684A>G MANE Select NP_004406.2:p.Tyr895Cys
NM_001008844.3:c.2684A>G NP_001008844.1:p.Tyr895Cys
NM_001319034.2:c.2684A>G NP_001305963.1:p.Tyr895Cys
Search 100 bp 5'
Search 100 bp 3'