Canonical Allele Identifier: CA362690678
Community Standard Title: NM_004415.4(DSP):c.6382C>T (p.Gln2128Ter)
Gene: DSP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.7583644C>T , CM000668.2:g.7583644C>T GRCh38
NC_000006.11:g.7583877C>T , CM000668.1:g.7583877C>T GRCh37
NC_000006.10:g.7528876C>T NCBI36
NG_008803.1:g.47008C>T , LRG_423:g.47008C>T

Transcript Alleles

HGVS Amino-acid Change
NM_004415.4:c.6382C>T MANE Select NP_004406.2:p.Gln2128Ter
ENST00000379802.8:c.6382C>T MANE Select ENSP00000369129.3:p.Gln2128Ter
NM_001008844.1:c.4585C>T NP_001008844.1:p.Gln1529Ter
NM_001008844.2:c.4585C>T NP_001008844.1:p.Gln1529Ter
NM_001008844.3:c.4585C>T NP_001008844.1:p.Gln1529Ter
NM_001319034.1:c.5053C>T NP_001305963.1:p.Gln1685Ter
NM_001319034.2:c.5053C>T NP_001305963.1:p.Gln1685Ter
NM_004415.2:c.6382C>T , LRG_423t1:c.6382C>T NP_004406.2:p.Gln2128Ter
NM_004415.3:c.6382C>T NP_004406.2:p.Gln2128Ter
ENST00000379802.7:c.6382C>T ENSP00000369129.3:p.Gln2128Ter
ENST00000418664.2:c.4585C>T ENSP00000396591.2:p.Gln1529Ter
ENST00000710359.1:c.5053C>T ENSP00000518230.1:p.Gln1685Ter
XM_011514323.1:c.5053C>T XP_011512625.1:p.Gln1685Ter