Canonical Allele Identifier: CA362674989
Community Standard Title: NM_004415.4(DSP):c.1042G>T (p.Glu348Ter)
Gene: DSP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.7566479G>T , CM000668.2:g.7566479G>T GRCh38
NC_000006.11:g.7566712G>T , CM000668.1:g.7566712G>T GRCh37
NC_000006.10:g.7511711G>T NCBI36
NG_008803.1:g.29843G>T , LRG_423:g.29843G>T

Transcript Alleles

HGVS Amino-acid Change
NM_004415.4:c.1042G>T MANE Select NP_004406.2:p.Glu348Ter
ENST00000379802.8:c.1042G>T MANE Select ENSP00000369129.3:p.Glu348Ter
NM_001008844.1:c.1042G>T NP_001008844.1:p.Glu348Ter
NM_001008844.2:c.1042G>T NP_001008844.1:p.Glu348Ter
NM_001008844.3:c.1042G>T NP_001008844.1:p.Glu348Ter
NM_001319034.1:c.1042G>T NP_001305963.1:p.Glu348Ter
NM_001319034.2:c.1042G>T NP_001305963.1:p.Glu348Ter
NM_004415.2:c.1042G>T , LRG_423t1:c.1042G>T NP_004406.2:p.Glu348Ter
NM_004415.3:c.1042G>T NP_004406.2:p.Glu348Ter
ENST00000379802.7:c.1042G>T ENSP00000369129.3:p.Glu348Ter
ENST00000418664.2:c.1042G>T ENSP00000396591.2:p.Glu348Ter
ENST00000682228.1:n.366G>T
ENST00000710359.1:c.1042G>T ENSP00000518230.1:p.Glu348Ter
XM_011514323.1:c.1042G>T XP_011512625.1:p.Glu348Ter