Canonical Allele Identifier: CA362689982
Gene: DSP HGNC NCBI

Linked Data

ClinVar Variation Id: 1332399
ClinVar RCV Id: RCV001805445
dbSNP Id: rs2113699415

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.7583314A>G , CM000668.2:g.7583314A>G GRCh38
NC_000006.11:g.7583547A>G , CM000668.1:g.7583547A>G GRCh37
NC_000006.10:g.7528546A>G NCBI36
NG_008803.1:g.46678A>G , LRG_423:g.46678A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000710359.1:c.4723A>G ENSP00000518230.1:p.Ile1575Val
ENST00000379802.8:c.6052A>G MANE Select ENSP00000369129.3:p.Ile2018Val
ENST00000379802.7:c.6052A>G ENSP00000369129.3:p.Ile2018Val
ENST00000418664.2:c.4255A>G ENSP00000396591.2:p.Ile1419Val
NM_001008844.1:c.4255A>G NP_001008844.1:p.Ile1419Val
NM_004415.2:c.6052A>G , LRG_423t1:c.6052A>G NP_004406.2:p.Ile2018Val
XM_011514323.1:c.4723A>G XP_011512625.1:p.Ile1575Val
NM_001008844.2:c.4255A>G NP_001008844.1:p.Ile1419Val
NM_001319034.1:c.4723A>G NP_001305963.1:p.Ile1575Val
NM_004415.3:c.6052A>G NP_004406.2:p.Ile2018Val
NM_004415.4:c.6052A>G MANE Select NP_004406.2:p.Ile2018Val
NM_001008844.3:c.4255A>G NP_001008844.1:p.Ile1419Val
NM_001319034.2:c.4723A>G NP_001305963.1:p.Ile1575Val