Canonical Allele Identifier: CA031124
Gene: DSP HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.7571934A>G
GRCh37 chr6:g.7572167A>G
Revel Score:
ENST00000379802 (MANE Select) 0.097
ENST00000418664 0.097
ENST00000397483 0.097
gnomAD v2:
6:7572167 A / G
gnomAD v4:
chr6-7571934-A-G
Joint Max Group AF 2.8e-7 (NFE)
Exomes Max Group AF 3e-7 (NFE)
ClinVar RCV:
RCV003798298
ClinVar Variation:
2934596
dbSNP:
767197002
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.7571934A>G , CM000668.2:g.7571934A>G GRCh38
NC_000006.11:g.7572167A>G , CM000668.1:g.7572167A>G GRCh37
NC_000006.10:g.7517166A>G NCBI36
NG_008803.1:g.35298A>G , LRG_423:g.35298A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000710359.1:c.1996A>G ENSP00000518230.1:p.Thr666Ala
ENST00000684395.1:n.637A>G
ENST00000379802.8:c.1996A>G MANE Select ENSP00000369129.3:p.Thr666Ala
ENST00000379802.7:c.1996A>G ENSP00000369129.3:p.Thr666Ala
ENST00000418664.2:c.1996A>G ENSP00000396591.2:p.Thr666Ala
NM_001008844.1:c.1996A>G NP_001008844.1:p.Thr666Ala
NM_004415.2:c.1996A>G , LRG_423t1:c.1996A>G NP_004406.2:p.Thr666Ala
XM_011514323.1:c.1996A>G XP_011512625.1:p.Thr666Ala
NM_001008844.2:c.1996A>G NP_001008844.1:p.Thr666Ala
NM_001319034.1:c.1996A>G NP_001305963.1:p.Thr666Ala
NM_004415.3:c.1996A>G NP_004406.2:p.Thr666Ala
NM_004415.4:c.1996A>G MANE Select NP_004406.2:p.Thr666Ala
NM_001008844.3:c.1996A>G NP_001008844.1:p.Thr666Ala
NM_001319034.2:c.1996A>G NP_001305963.1:p.Thr666Ala
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