Canonical Allele Identifier: CA006531
Community Standard Title: NM_004415.4(DSP):c.5554C>T (p.Arg1852Cys)
Gene: DSP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.7582816C>T , CM000668.2:g.7582816C>T GRCh38
NC_000006.11:g.7583049C>T , CM000668.1:g.7583049C>T GRCh37
NC_000006.10:g.7528048C>T NCBI36
NG_008803.1:g.46180C>T , LRG_423:g.46180C>T

Transcript Alleles

HGVS Amino-acid Change
NM_004415.4:c.5554C>T MANE Select NP_004406.2:p.Arg1852Cys
ENST00000379802.8:c.5554C>T MANE Select ENSP00000369129.3:p.Arg1852Cys
NM_001008844.1:c.3757C>T NP_001008844.1:p.Arg1253Cys
NM_001008844.2:c.3757C>T NP_001008844.1:p.Arg1253Cys
NM_001008844.3:c.3757C>T NP_001008844.1:p.Arg1253Cys
NM_001319034.1:c.4225C>T NP_001305963.1:p.Arg1409Cys
NM_001319034.2:c.4225C>T NP_001305963.1:p.Arg1409Cys
NM_004415.2:c.5554C>T , LRG_423t1:c.5554C>T NP_004406.2:p.Arg1852Cys
NM_004415.3:c.5554C>T NP_004406.2:p.Arg1852Cys
ENST00000379802.7:c.5554C>T ENSP00000369129.3:p.Arg1852Cys
ENST00000418664.2:c.3757C>T ENSP00000396591.2:p.Arg1253Cys
ENST00000710359.1:c.4225C>T ENSP00000518230.1:p.Arg1409Cys
XM_011514323.1:c.4225C>T XP_011512625.1:p.Arg1409Cys