Canonical Allele Identifier: CA362688870
Community Standard Title: NM_004415.4(DSP):c.5551C>T (p.Gln1851Ter)
Gene: DSP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.7582813C>T , CM000668.2:g.7582813C>T GRCh38
NC_000006.11:g.7583046C>T , CM000668.1:g.7583046C>T GRCh37
NC_000006.10:g.7528045C>T NCBI36
NG_008803.1:g.46177C>T , LRG_423:g.46177C>T

Transcript Alleles

HGVS Amino-acid Change
NM_004415.4:c.5551C>T MANE Select NP_004406.2:p.Gln1851Ter
ENST00000379802.8:c.5551C>T MANE Select ENSP00000369129.3:p.Gln1851Ter
NM_001008844.1:c.3754C>T NP_001008844.1:p.Gln1252Ter
NM_001008844.2:c.3754C>T NP_001008844.1:p.Gln1252Ter
NM_001008844.3:c.3754C>T NP_001008844.1:p.Gln1252Ter
NM_001319034.1:c.4222C>T NP_001305963.1:p.Gln1408Ter
NM_001319034.2:c.4222C>T NP_001305963.1:p.Gln1408Ter
NM_004415.2:c.5551C>T , LRG_423t1:c.5551C>T NP_004406.2:p.Gln1851Ter
NM_004415.3:c.5551C>T NP_004406.2:p.Gln1851Ter
ENST00000379802.7:c.5551C>T ENSP00000369129.3:p.Gln1851Ter
ENST00000418664.2:c.3754C>T ENSP00000396591.2:p.Gln1252Ter
ENST00000710359.1:c.4222C>T ENSP00000518230.1:p.Gln1408Ter
XM_011514323.1:c.4222C>T XP_011512625.1:p.Gln1408Ter