Canonical Allele Identifier: CA133972315
Community Standard Title: NM_004415.4(DSP):c.5785G>A (p.Glu1929Lys)
Gene: DSP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.7583047G>A , CM000668.2:g.7583047G>A GRCh38
NC_000006.11:g.7583280G>A , CM000668.1:g.7583280G>A GRCh37
NC_000006.10:g.7528279G>A NCBI36
NG_008803.1:g.46411G>A , LRG_423:g.46411G>A

Transcript Alleles

HGVS Amino-acid Change
NM_004415.4:c.5785G>A MANE Select NP_004406.2:p.Glu1929Lys
ENST00000379802.8:c.5785G>A MANE Select ENSP00000369129.3:p.Glu1929Lys
NM_001008844.1:c.3988G>A NP_001008844.1:p.Glu1330Lys
NM_001008844.2:c.3988G>A NP_001008844.1:p.Glu1330Lys
NM_001008844.3:c.3988G>A NP_001008844.1:p.Glu1330Lys
NM_001319034.1:c.4456G>A NP_001305963.1:p.Glu1486Lys
NM_001319034.2:c.4456G>A NP_001305963.1:p.Glu1486Lys
NM_004415.2:c.5785G>A , LRG_423t1:c.5785G>A NP_004406.2:p.Glu1929Lys
NM_004415.3:c.5785G>A NP_004406.2:p.Glu1929Lys
ENST00000379802.7:c.5785G>A ENSP00000369129.3:p.Glu1929Lys
ENST00000418664.2:c.3988G>A ENSP00000396591.2:p.Glu1330Lys
ENST00000710359.1:c.4456G>A ENSP00000518230.1:p.Glu1486Lys
XM_011514323.1:c.4456G>A XP_011512625.1:p.Glu1486Lys