Canonical Allele Identifier: CA409805429
Gene: APP HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.25891730C>G , CM000683.2:g.25891730C>G GRCh38
NC_000021.8:g.27264042C>G , CM000683.1:g.27264042C>G GRCh37
NC_000021.7:g.26185913C>G NCBI36
NG_007376.1:g.284091G>C
NG_007376.2:g.284399G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000707132.1:n.2170G>C
ENST00000707133.1:n.600G>C
ENST00000707134.1:n.869G>C
ENST00000346798.8:c.2203G>C MANE Select ENSP00000284981.4:p.Val735Leu
ENST00000346798.7:c.2203G>C ENSP00000284981.4:p.Val735Leu
ENST00000348990.9:c.1978G>C ENSP00000345463.5:p.Val660Leu
ENST00000354192.7:c.1810G>C ENSP00000346129.3:p.Val604Leu
ENST00000357903.7:c.2146G>C ENSP00000350578.3:p.Val716Leu
ENST00000358918.7:c.2149G>C ENSP00000351796.3:p.Val717Leu
ENST00000359726.7:c.1873G>C ENSP00000352760.4:p.Val625Leu
ENST00000439274.6:c.2035G>C ENSP00000398879.2:p.Val679Leu
ENST00000440126.7:c.2131G>C ENSP00000387483.2:p.Val711Leu
ENST00000464867.1:n.550G>C
NM_000484.3:c.2203G>C NP_000475.1:p.Val735Leu
NM_001136016.3:c.2131G>C NP_001129488.1:p.Val711Leu
NM_001136129.2:c.1810G>C NP_001129601.1:p.Val604Leu
NM_001136130.2:c.2035G>C NP_001129602.1:p.Val679Leu
NM_001136131.2:c.1873G>C NP_001129603.1:p.Val625Leu
NM_001204301.1:c.2149G>C NP_001191230.1:p.Val717Leu
NM_001204302.1:c.2092G>C NP_001191231.1:p.Val698Leu
NM_001204303.1:c.1924G>C NP_001191232.1:p.Val642Leu
NM_201413.2:c.2146G>C NP_958816.1:p.Val716Leu
NM_201414.2:c.1978G>C NP_958817.1:p.Val660Leu
NM_000484.4:c.2203G>C MANE Select NP_000475.1:p.Val735Leu
NM_001136129.3:c.1810G>C NP_001129601.1:p.Val604Leu
NM_001136130.3:c.2035G>C NP_001129602.1:p.Val679Leu
NM_001204301.2:c.2149G>C NP_001191230.1:p.Val717Leu
NM_001204302.2:c.2092G>C NP_001191231.1:p.Val698Leu
NM_001204303.2:c.1924G>C NP_001191232.1:p.Val642Leu
NM_201413.3:c.2146G>C NP_958816.1:p.Val716Leu
NM_201414.3:c.1978G>C NP_958817.1:p.Val660Leu
NM_001136131.3:c.1873G>C NP_001129603.1:p.Val625Leu
NM_001385253.1:c.2035G>C NP_001372182.1:p.Val679Leu