Canonical Allele Identifier: CA006940
Community Standard Title: NM_004415.4(DSP):c.6478C>T (p.Arg2160Ter)
Gene: DSP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.7583740C>T , CM000668.2:g.7583740C>T GRCh38
NC_000006.11:g.7583973C>T , CM000668.1:g.7583973C>T GRCh37
NC_000006.10:g.7528972C>T NCBI36
NG_008803.1:g.47104C>T , LRG_423:g.47104C>T

Transcript Alleles

HGVS Amino-acid Change
NM_004415.4:c.6478C>T MANE Select NP_004406.2:p.Arg2160Ter
ENST00000379802.8:c.6478C>T MANE Select ENSP00000369129.3:p.Arg2160Ter
NM_001008844.1:c.4681C>T NP_001008844.1:p.Arg1561Ter
NM_001008844.2:c.4681C>T NP_001008844.1:p.Arg1561Ter
NM_001008844.3:c.4681C>T NP_001008844.1:p.Arg1561Ter
NM_001319034.1:c.5149C>T NP_001305963.1:p.Arg1717Ter
NM_001319034.2:c.5149C>T NP_001305963.1:p.Arg1717Ter
NM_004415.2:c.6478C>T , LRG_423t1:c.6478C>T NP_004406.2:p.Arg2160Ter
NM_004415.3:c.6478C>T NP_004406.2:p.Arg2160Ter
ENST00000379802.7:c.6478C>T ENSP00000369129.3:p.Arg2160Ter
ENST00000418664.2:c.4681C>T ENSP00000396591.2:p.Arg1561Ter
ENST00000710359.1:c.5149C>T ENSP00000518230.1:p.Arg1717Ter
XM_011514323.1:c.5149C>T XP_011512625.1:p.Arg1717Ter