Canonical Allele Identifier: CA448716966
Gene: DSP HGNC NCBI

Linked Data

ClinVar Variation Id: 927662
ClinVar RCV Id: RCV001191060
dbSNP Id: rs1759607427
gnomAD v4: 6-7585194-C-T
MyVariant Identifiers: chr6:g.7585427C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.7585194C>T , CM000668.2:g.7585194C>T GRCh38
NC_000006.11:g.7585427C>T , CM000668.1:g.7585427C>T GRCh37
NC_000006.10:g.7530426C>T NCBI36
NG_008803.1:g.48558C>T , LRG_423:g.48558C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000710359.1:c.6603C>T ENSP00000518230.1:p.Ser2201=
ENST00000379802.8:c.7932C>T MANE Select ENSP00000369129.3:p.Ser2644=
ENST00000379802.7:c.7932C>T ENSP00000369129.3:p.Ser2644=
ENST00000418664.2:c.6135C>T ENSP00000396591.2:p.Ser2045=
NM_001008844.1:c.6135C>T NP_001008844.1:p.Ser2045=
NM_004415.2:c.7932C>T , LRG_423t1:c.7932C>T NP_004406.2:p.Ser2644=
XM_011514323.1:c.6603C>T XP_011512625.1:p.Ser2201=
NM_001008844.2:c.6135C>T NP_001008844.1:p.Ser2045=
NM_001319034.1:c.6603C>T NP_001305963.1:p.Ser2201=
NM_004415.3:c.7932C>T NP_004406.2:p.Ser2644=
NM_004415.4:c.7932C>T MANE Select NP_004406.2:p.Ser2644=
NM_001008844.3:c.6135C>T NP_001008844.1:p.Ser2045=
NM_001319034.2:c.6603C>T NP_001305963.1:p.Ser2201=