Canonical Allele Identifier: CA051822
Gene: DSP HGNC NCBI

Linked Data

ClinVar Variation Id: 928301
ClinVar RCV Id: RCV001192077
dbSNP Id: rs779485431
gnomAD v2: 6-7585716-G-A
gnomAD v4: 6-7585483-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.7585483G>A , CM000668.2:g.7585483G>A GRCh38
NC_000006.11:g.7585716G>A , CM000668.1:g.7585716G>A GRCh37
NC_000006.10:g.7530715G>A NCBI36
NG_008803.1:g.48847G>A , LRG_423:g.48847G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000710359.1:c.6892G>A ENSP00000518230.1:p.Val2298Met
ENST00000379802.8:c.8221G>A MANE Select ENSP00000369129.3:p.Val2741Met
ENST00000379802.7:c.8221G>A ENSP00000369129.3:p.Val2741Met
ENST00000418664.2:c.6424G>A ENSP00000396591.2:p.Val2142Met
NM_001008844.1:c.6424G>A NP_001008844.1:p.Val2142Met
NM_004415.2:c.8221G>A , LRG_423t1:c.8221G>A NP_004406.2:p.Val2741Met
XM_011514323.1:c.6892G>A XP_011512625.1:p.Val2298Met
NM_001008844.2:c.6424G>A NP_001008844.1:p.Val2142Met
NM_001319034.1:c.6892G>A NP_001305963.1:p.Val2298Met
NM_004415.3:c.8221G>A NP_004406.2:p.Val2741Met
NM_004415.4:c.8221G>A MANE Select NP_004406.2:p.Val2741Met
NM_001008844.3:c.6424G>A NP_001008844.1:p.Val2142Met
NM_001319034.2:c.6892G>A NP_001305963.1:p.Val2298Met