Canonical Allele Identifier: CA028725
Community Standard Title: NM_004415.4(DSP):c.1563C>A (p.Asp521Glu)
Gene: DSP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.7569329C>A , CM000668.2:g.7569329C>A GRCh38
NC_000006.11:g.7569562C>A , CM000668.1:g.7569562C>A GRCh37
NC_000006.10:g.7514561C>A NCBI36
NG_008803.1:g.32693C>A , LRG_423:g.32693C>A

Transcript Alleles

HGVS Amino-acid Change
NM_004415.4:c.1563C>A MANE Select NP_004406.2:p.Asp521Glu
ENST00000379802.8:c.1563C>A MANE Select ENSP00000369129.3:p.Asp521Glu
NM_001008844.1:c.1563C>A NP_001008844.1:p.Asp521Glu
NM_001008844.2:c.1563C>A NP_001008844.1:p.Asp521Glu
NM_001008844.3:c.1563C>A NP_001008844.1:p.Asp521Glu
NM_001319034.1:c.1563C>A NP_001305963.1:p.Asp521Glu
NM_001319034.2:c.1563C>A NP_001305963.1:p.Asp521Glu
NM_004415.2:c.1563C>A , LRG_423t1:c.1563C>A NP_004406.2:p.Asp521Glu
NM_004415.3:c.1563C>A NP_004406.2:p.Asp521Glu
ENST00000379802.7:c.1563C>A ENSP00000369129.3:p.Asp521Glu
ENST00000418664.2:c.1563C>A ENSP00000396591.2:p.Asp521Glu
ENST00000710359.1:c.1563C>A ENSP00000518230.1:p.Asp521Glu
XM_011514323.1:c.1563C>A XP_011512625.1:p.Asp521Glu