Canonical Allele Identifier: CA362685109
Gene: DSP HGNC NCBI

Linked Data

ClinVar Variation Id: 1434655
ClinVar RCV Id: RCV001962504
dbSNP Id: rs2113692916

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.7580092A>T , CM000668.2:g.7580092A>T GRCh38
NC_000006.11:g.7580325A>T , CM000668.1:g.7580325A>T GRCh37
NC_000006.10:g.7525324A>T NCBI36
NG_008803.1:g.43456A>T , LRG_423:g.43456A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000710359.1:c.3902A>T ENSP00000518230.1:p.Gln1301Leu
ENST00000379802.8:c.3902A>T MANE Select ENSP00000369129.3:p.Gln1301Leu
ENST00000379802.7:c.3902A>T ENSP00000369129.3:p.Gln1301Leu
ENST00000418664.2:c.3582+320A>T ENSP00000396591.2:n.3582+320A>T
NM_001008844.1:c.3582+320A>T NP_001008844.1:n.3582+320A>T
NM_004415.2:c.3902A>T , LRG_423t1:c.3902A>T NP_004406.2:p.Gln1301Leu
XM_011514323.1:c.3902A>T XP_011512625.1:p.Gln1301Leu
NM_001008844.2:c.3582+320A>T NP_001008844.1:n.3582+320A>T
NM_001319034.1:c.3902A>T NP_001305963.1:p.Gln1301Leu
NM_004415.3:c.3902A>T NP_004406.2:p.Gln1301Leu
NM_004415.4:c.3902A>T MANE Select NP_004406.2:p.Gln1301Leu
NM_001008844.3:c.3582+320A>T NP_001008844.1:n.3582+320A>T
NM_001319034.2:c.3902A>T NP_001305963.1:p.Gln1301Leu