Canonical Allele Identifier: CA051609
Community Standard Title: NM_004415.4(DSP):c.8133G>T (p.Glu2711Asp)
Gene: DSP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.7585395G>T , CM000668.2:g.7585395G>T GRCh38
NC_000006.11:g.7585628G>T , CM000668.1:g.7585628G>T GRCh37
NC_000006.10:g.7530627G>T NCBI36
NG_008803.1:g.48759G>T , LRG_423:g.48759G>T

Transcript Alleles

HGVS Amino-acid Change
NM_004415.4:c.8133G>T MANE Select NP_004406.2:p.Glu2711Asp
ENST00000379802.8:c.8133G>T MANE Select ENSP00000369129.3:p.Glu2711Asp
NM_001008844.1:c.6336G>T NP_001008844.1:p.Glu2112Asp
NM_001008844.2:c.6336G>T NP_001008844.1:p.Glu2112Asp
NM_001008844.3:c.6336G>T NP_001008844.1:p.Glu2112Asp
NM_001319034.1:c.6804G>T NP_001305963.1:p.Glu2268Asp
NM_001319034.2:c.6804G>T NP_001305963.1:p.Glu2268Asp
NM_004415.2:c.8133G>T , LRG_423t1:c.8133G>T NP_004406.2:p.Glu2711Asp
NM_004415.3:c.8133G>T NP_004406.2:p.Glu2711Asp
ENST00000379802.7:c.8133G>T ENSP00000369129.3:p.Glu2711Asp
ENST00000418664.2:c.6336G>T ENSP00000396591.2:p.Glu2112Asp
ENST00000710359.1:c.6804G>T ENSP00000518230.1:p.Glu2268Asp
XM_011514323.1:c.6804G>T XP_011512625.1:p.Glu2268Asp