Canonical Allele Identifier: CA362683143
Gene: DSP HGNC NCBI

Linked Data

ClinVar Variation Id: 1171750
ClinVar RCV Id: RCV001525094
dbSNP Id: rs2113691184

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.7579345G>T , CM000668.2:g.7579345G>T GRCh38
NC_000006.11:g.7579578G>T , CM000668.1:g.7579578G>T GRCh37
NC_000006.10:g.7524577G>T NCBI36
NG_008803.1:g.42709G>T , LRG_423:g.42709G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000710359.1:c.3155G>T ENSP00000518230.1:p.Cys1052Phe
ENST00000379802.8:c.3155G>T MANE Select ENSP00000369129.3:p.Cys1052Phe
ENST00000379802.7:c.3155G>T ENSP00000369129.3:p.Cys1052Phe
ENST00000418664.2:c.3155G>T ENSP00000396591.2:p.Cys1052Phe
NM_001008844.1:c.3155G>T NP_001008844.1:p.Cys1052Phe
NM_004415.2:c.3155G>T , LRG_423t1:c.3155G>T NP_004406.2:p.Cys1052Phe
XM_011514323.1:c.3155G>T XP_011512625.1:p.Cys1052Phe
NM_001008844.2:c.3155G>T NP_001008844.1:p.Cys1052Phe
NM_001319034.1:c.3155G>T NP_001305963.1:p.Cys1052Phe
NM_004415.3:c.3155G>T NP_004406.2:p.Cys1052Phe
NM_004415.4:c.3155G>T MANE Select NP_004406.2:p.Cys1052Phe
NM_001008844.3:c.3155G>T NP_001008844.1:p.Cys1052Phe
NM_001319034.2:c.3155G>T NP_001305963.1:p.Cys1052Phe