Canonical Allele Identifier: CA045575
Gene: DSP HGNC NCBI

Linked Data

ClinVar Variation Id: 578857
ClinVar RCV Id: RCV000701988
dbSNP Id: rs751447598
gnomAD v2: 6-7583193-G-A
gnomAD v4: 6-7582960-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.7582960G>A , CM000668.2:g.7582960G>A GRCh38
NC_000006.11:g.7583193G>A , CM000668.1:g.7583193G>A GRCh37
NC_000006.10:g.7528192G>A NCBI36
NG_008803.1:g.46324G>A , LRG_423:g.46324G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000710359.1:c.4369G>A ENSP00000518230.1:p.Glu1457Lys
ENST00000379802.8:c.5698G>A MANE Select ENSP00000369129.3:p.Glu1900Lys
ENST00000379802.7:c.5698G>A ENSP00000369129.3:p.Glu1900Lys
ENST00000418664.2:c.3901G>A ENSP00000396591.2:p.Glu1301Lys
NM_001008844.1:c.3901G>A NP_001008844.1:p.Glu1301Lys
NM_004415.2:c.5698G>A , LRG_423t1:c.5698G>A NP_004406.2:p.Glu1900Lys
XM_011514323.1:c.4369G>A XP_011512625.1:p.Glu1457Lys
NM_001008844.2:c.3901G>A NP_001008844.1:p.Glu1301Lys
NM_001319034.1:c.4369G>A NP_001305963.1:p.Glu1457Lys
NM_004415.3:c.5698G>A NP_004406.2:p.Glu1900Lys
NM_004415.4:c.5698G>A MANE Select NP_004406.2:p.Glu1900Lys
NM_001008844.3:c.3901G>A NP_001008844.1:p.Glu1301Lys
NM_001319034.2:c.4369G>A NP_001305963.1:p.Glu1457Lys