Canonical Allele Identifier: CA362688028
Community Standard Title: NM_004415.4(DSP):c.5178C>G (p.Asn1726Lys)
Gene: DSP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.7581368C>G , CM000668.2:g.7581368C>G GRCh38
NC_000006.11:g.7581601C>G , CM000668.1:g.7581601C>G GRCh37
NC_000006.10:g.7526600C>G NCBI36
NG_008803.1:g.44732C>G , LRG_423:g.44732C>G

Transcript Alleles

HGVS Amino-acid Change
NM_004415.4:c.5178C>G MANE Select NP_004406.2:p.Asn1726Lys
ENST00000379802.8:c.5178C>G MANE Select ENSP00000369129.3:p.Asn1726Lys
NM_001008844.1:c.3583-1274C>G NP_001008844.1:n.3583-1274C>G
NM_001008844.2:c.3583-1274C>G NP_001008844.1:n.3583-1274C>G
NM_001008844.3:c.3583-1274C>G NP_001008844.1:n.3583-1274C>G
NM_001319034.1:c.4050+1128C>G NP_001305963.1:n.4050+1128C>G
NM_001319034.2:c.4050+1128C>G NP_001305963.1:n.4050+1128C>G
NM_004415.2:c.5178C>G , LRG_423t1:c.5178C>G NP_004406.2:p.Asn1726Lys
NM_004415.3:c.5178C>G NP_004406.2:p.Asn1726Lys
ENST00000379802.7:c.5178C>G ENSP00000369129.3:p.Asn1726Lys
ENST00000418664.2:c.3583-1274C>G ENSP00000396591.2:n.3583-1274C>G
ENST00000710359.1:c.4050+1128C>G ENSP00000518230.1:n.4050+1128C>G
XM_011514323.1:c.4050+1128C>G XP_011512625.1:n.4050+1128C>G