Canonical Allele Identifier: CA409810300
Community Standard Title: NM_000484.4(APP):c.1530G>T (p.Lys510Asn)
Gene: APP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.25955684C>A , CM000683.2:g.25955684C>A GRCh38
NC_000021.8:g.27327998C>A , CM000683.1:g.27327998C>A GRCh37
NC_000021.7:g.26249869C>A NCBI36
NG_007376.1:g.220135G>T
NG_007376.2:g.220445G>T

Transcript Alleles

HGVS Amino-acid Change
NM_000484.4:c.1530G>T MANE Select NP_000475.1:p.Lys510Asn
ENST00000346798.8:c.1530G>T MANE Select ENSP00000284981.4:p.Lys510Asn
NM_000484.3:c.1530G>T NP_000475.1:p.Lys510Asn
NM_001136016.3:c.1458G>T NP_001129488.1:p.Lys486Asn
NM_001136129.2:c.1137G>T NP_001129601.1:p.Lys379Asn
NM_001136129.3:c.1137G>T NP_001129601.1:p.Lys379Asn
NM_001136130.2:c.1362G>T NP_001129602.1:p.Lys454Asn
NM_001136130.3:c.1362G>T NP_001129602.1:p.Lys454Asn
NM_001136131.2:c.1200G>T NP_001129603.1:p.Lys400Asn
NM_001136131.3:c.1200G>T NP_001129603.1:p.Lys400Asn
NM_001204301.1:c.1530G>T NP_001191230.1:p.Lys510Asn
NM_001204301.2:c.1530G>T NP_001191230.1:p.Lys510Asn
NM_001204302.1:c.1473G>T NP_001191231.1:p.Lys491Asn
NM_001204302.2:c.1473G>T NP_001191231.1:p.Lys491Asn
NM_001204303.1:c.1305G>T NP_001191232.1:p.Lys435Asn
NM_001204303.2:c.1305G>T NP_001191232.1:p.Lys435Asn
NM_001385253.1:c.1362G>T NP_001372182.1:p.Lys454Asn
NM_201413.2:c.1473G>T NP_958816.1:p.Lys491Asn
NM_201413.3:c.1473G>T NP_958816.1:p.Lys491Asn
NM_201414.2:c.1305G>T NP_958817.1:p.Lys435Asn
NM_201414.3:c.1305G>T NP_958817.1:p.Lys435Asn
ENST00000346798.7:c.1530G>T ENSP00000284981.4:p.Lys510Asn
ENST00000348990.9:c.1305G>T ENSP00000345463.5:p.Lys435Asn
ENST00000354192.7:c.1137G>T ENSP00000346129.3:p.Lys379Asn
ENST00000357903.7:c.1473G>T ENSP00000350578.3:p.Lys491Asn
ENST00000358918.7:c.1530G>T ENSP00000351796.3:p.Lys510Asn
ENST00000359726.7:c.1200G>T ENSP00000352760.4:p.Lys400Asn
ENST00000439274.6:c.1362G>T ENSP00000398879.2:p.Lys454Asn
ENST00000440126.7:c.1458G>T ENSP00000387483.2:p.Lys486Asn
ENST00000448850.5:c.1237G>T
ENST00000707132.1:n.1497G>T
ENST00000707134.1:n.196G>T
XM_024452075.1:c.1473G>T XP_024307843.1:p.Lys491Asn