Canonical Allele Identifier: CA046130
Gene: DSP HGNC NCBI

Linked Data

ClinVar Variation Id: 920021
ClinVar RCV Id: RCV001178512
dbSNP Id: rs577625038
gnomAD v2: 6-7583453-C-G
gnomAD v4: 6-7583220-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.7583220C>G , CM000668.2:g.7583220C>G GRCh38
NC_000006.11:g.7583453C>G , CM000668.1:g.7583453C>G GRCh37
NC_000006.10:g.7528452C>G NCBI36
NG_008803.1:g.46584C>G , LRG_423:g.46584C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000710359.1:c.4629C>G ENSP00000518230.1:p.Ile1543Met
ENST00000379802.8:c.5958C>G MANE Select ENSP00000369129.3:p.Ile1986Met
ENST00000379802.7:c.5958C>G ENSP00000369129.3:p.Ile1986Met
ENST00000418664.2:c.4161C>G ENSP00000396591.2:p.Ile1387Met
NM_001008844.1:c.4161C>G NP_001008844.1:p.Ile1387Met
NM_004415.2:c.5958C>G , LRG_423t1:c.5958C>G NP_004406.2:p.Ile1986Met
XM_011514323.1:c.4629C>G XP_011512625.1:p.Ile1543Met
NM_001008844.2:c.4161C>G NP_001008844.1:p.Ile1387Met
NM_001319034.1:c.4629C>G NP_001305963.1:p.Ile1543Met
NM_004415.3:c.5958C>G NP_004406.2:p.Ile1986Met
NM_004415.4:c.5958C>G MANE Select NP_004406.2:p.Ile1986Met
NM_001008844.3:c.4161C>G NP_001008844.1:p.Ile1387Met
NM_001319034.2:c.4629C>G NP_001305963.1:p.Ile1543Met