Canonical Allele Identifier: CA102633992

Gene: DAPP1

Genomic Alleles

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

Transcript Alleles

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