Canonical Allele Identifier: CA362693711
Community Standard Title: NM_004415.4(DSP):c.7756C>T (p.Arg2586Ter)
Gene: DSP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.7585018C>T , CM000668.2:g.7585018C>T GRCh38
NC_000006.11:g.7585251C>T , CM000668.1:g.7585251C>T GRCh37
NC_000006.10:g.7530250C>T NCBI36
NG_008803.1:g.48382C>T , LRG_423:g.48382C>T

Transcript Alleles

HGVS Amino-acid Change
NM_004415.4:c.7756C>T MANE Select NP_004406.2:p.Arg2586Ter
ENST00000379802.8:c.7756C>T MANE Select ENSP00000369129.3:p.Arg2586Ter
NM_001008844.1:c.5959C>T NP_001008844.1:p.Arg1987Ter
NM_001008844.2:c.5959C>T NP_001008844.1:p.Arg1987Ter
NM_001008844.3:c.5959C>T NP_001008844.1:p.Arg1987Ter
NM_001319034.1:c.6427C>T NP_001305963.1:p.Arg2143Ter
NM_001319034.2:c.6427C>T NP_001305963.1:p.Arg2143Ter
NM_004415.2:c.7756C>T , LRG_423t1:c.7756C>T NP_004406.2:p.Arg2586Ter
NM_004415.3:c.7756C>T NP_004406.2:p.Arg2586Ter
ENST00000379802.7:c.7756C>T ENSP00000369129.3:p.Arg2586Ter
ENST00000418664.2:c.5959C>T ENSP00000396591.2:p.Arg1987Ter
ENST00000710359.1:c.6427C>T ENSP00000518230.1:p.Arg2143Ter
XM_011514323.1:c.6427C>T XP_011512625.1:p.Arg2143Ter