Canonical Allele Identifier: CA362694102
Gene: DSP HGNC NCBI

Linked Data

ClinVar Variation Id: 659905
dbSNP Id: rs1425701789
gnomAD v2: 6-7585432-C-T
gnomAD v3: 6-7585199-C-T
gnomAD v4: 6-7585199-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.7585199C>T , CM000668.2:g.7585199C>T GRCh38
NC_000006.11:g.7585432C>T , CM000668.1:g.7585432C>T GRCh37
NC_000006.10:g.7530431C>T NCBI36
NG_008803.1:g.48563C>T , LRG_423:g.48563C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000710359.1:c.6608C>T ENSP00000518230.1:p.Thr2203Met
ENST00000379802.8:c.7937C>T MANE Select ENSP00000369129.3:p.Thr2646Met
ENST00000379802.7:c.7937C>T ENSP00000369129.3:p.Thr2646Met
ENST00000418664.2:c.6140C>T ENSP00000396591.2:p.Thr2047Met
NM_001008844.1:c.6140C>T NP_001008844.1:p.Thr2047Met
NM_004415.2:c.7937C>T , LRG_423t1:c.7937C>T NP_004406.2:p.Thr2646Met
XM_011514323.1:c.6608C>T XP_011512625.1:p.Thr2203Met
NM_001008844.2:c.6140C>T NP_001008844.1:p.Thr2047Met
NM_001319034.1:c.6608C>T NP_001305963.1:p.Thr2203Met
NM_004415.3:c.7937C>T NP_004406.2:p.Thr2646Met
NM_004415.4:c.7937C>T MANE Select NP_004406.2:p.Thr2646Met
NM_001008844.3:c.6140C>T NP_001008844.1:p.Thr2047Met
NM_001319034.2:c.6608C>T NP_001305963.1:p.Thr2203Met