Canonical Allele Identifier: CA004279
Gene: DSP HGNC NCBI
COSMIC:
COSM5002046 (not active)
MyVariant.info:
GRCh38 chr6:g.7580052A>C
GRCh37 chr6:g.7580285A>C
Revel Score:
ENST00000379802 (MANE Select) 0.801
gnomAD v2:
6:7580285 A / C
gnomAD v3:
6:7580052 A / C
gnomAD v4:
chr6-7580052-A-C
Joint Max Group AF 0.00027306 (NFE)
Genomes Max Group AF 0.00040846 (SAS)
Exomes Max Group AF 0.00027445 (NFE)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.7580052A>C , CM000668.2:g.7580052A>C GRCh38
NC_000006.11:g.7580285A>C , CM000668.1:g.7580285A>C GRCh37
NC_000006.10:g.7525284A>C NCBI36
NG_008803.1:g.43416A>C , LRG_423:g.43416A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000710359.1:c.3862A>C ENSP00000518230.1:p.Lys1288Gln
ENST00000379802.8:c.3862A>C MANE Select ENSP00000369129.3:p.Lys1288Gln
ENST00000379802.7:c.3862A>C ENSP00000369129.3:p.Lys1288Gln
ENST00000418664.2:c.3582+280A>C ENSP00000396591.2:n.3582+280A>C
NM_001008844.1:c.3582+280A>C NP_001008844.1:n.3582+280A>C
NM_004415.2:c.3862A>C , LRG_423t1:c.3862A>C NP_004406.2:p.Lys1288Gln
XM_011514323.1:c.3862A>C XP_011512625.1:p.Lys1288Gln
NM_001008844.2:c.3582+280A>C NP_001008844.1:n.3582+280A>C
NM_001319034.1:c.3862A>C NP_001305963.1:p.Lys1288Gln
NM_004415.3:c.3862A>C NP_004406.2:p.Lys1288Gln
NM_004415.4:c.3862A>C MANE Select NP_004406.2:p.Lys1288Gln
NM_001008844.3:c.3582+280A>C NP_001008844.1:n.3582+280A>C
NM_001319034.2:c.3862A>C NP_001305963.1:p.Lys1288Gln
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