Canonical Allele Identifier: CA357509703
Gene: DAPP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.99868122A>T , CM000666.2:g.99868122A>T GRCh38
NC_000004.11:g.100789279A>T , CM000666.1:g.100789279A>T GRCh37
NC_000004.10:g.101008302A>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000512369.2:c.780A>T MANE Select ENSP00000423602.1:p.Gln260His
ENST00000296414.11:c.*50A>T ENSP00000296414.7:n.*50A>T
ENST00000512369.1:c.780A>T ENSP00000423602.1:p.Gln260His
ENST00000514301.1:n.1256A>T
NM_001306151.1:c.*50A>T NP_001293080.1:n.*50A>T
NM_014395.2:c.780A>T NP_055210.2:p.Gln260His
XM_011531840.1:c.774+2001A>T XP_011530142.1:n.774+2001A>T
XM_011531842.1:c.*44A>T XP_011530144.1:n.*44A>T
XM_011531843.1:c.414A>T XP_011530145.1:p.Gln138His
XM_011531840.2:c.774+2001A>T XP_011530142.1:n.774+2001A>T
XM_011531843.3:c.414A>T XP_011530145.1:p.Gln138His
XM_017008024.1:c.*38+2001A>T XP_016863513.1:n.*38+2001A>T
XR_001741200.1:n.1037A>T
NM_014395.3:c.780A>T MANE Select NP_055210.2:p.Gln260His
NM_001306151.2:c.*50A>T NP_001293080.1:n.*50A>T