Canonical Allele Identifier: CA409805616

Gene: APP

Linked Data

• MyVariant Identifiers: chr21:g.27264134C>G (hg19) ; chr21:g.25891822C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.25891822C>G , CM000683.2:g.25891822C>G	GRCh38
NC_000021.8:g.27264134C>G , CM000683.1:g.27264134C>G	GRCh37
NC_000021.7:g.26186005C>G	NCBI36
NG_007376.1:g.283999G>C
NG_007376.2:g.284307G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000707132.1:n.2078G>C
ENST00000707133.1:n.508G>C
ENST00000707134.1:n.777G>C
ENST00000346798.8:c.2111G>C MANE Select	ENSP00000284981.4:p.Gly704Ala
ENST00000346798.7:c.2111G>C	ENSP00000284981.4:p.Gly704Ala
ENST00000348990.9:c.1886G>C	ENSP00000345463.5:p.Gly629Ala
ENST00000354192.7:c.1718G>C	ENSP00000346129.3:p.Gly573Ala
ENST00000357903.7:c.2054G>C	ENSP00000350578.3:p.Gly685Ala
ENST00000358918.7:c.2057G>C	ENSP00000351796.3:p.Gly686Ala
ENST00000359726.7:c.1781G>C	ENSP00000352760.4:p.Gly594Ala
ENST00000439274.6:c.1943G>C	ENSP00000398879.2:p.Gly648Ala
ENST00000440126.7:c.2039G>C	ENSP00000387483.2:p.Gly680Ala
ENST00000464867.1:n.458G>C
NM_000484.3:c.2111G>C	NP_000475.1:p.Gly704Ala
NM_001136016.3:c.2039G>C	NP_001129488.1:p.Gly680Ala
NM_001136129.2:c.1718G>C	NP_001129601.1:p.Gly573Ala
NM_001136130.2:c.1943G>C	NP_001129602.1:p.Gly648Ala
NM_001136131.2:c.1781G>C	NP_001129603.1:p.Gly594Ala
NM_001204301.1:c.2057G>C	NP_001191230.1:p.Gly686Ala
NM_001204302.1:c.2000G>C	NP_001191231.1:p.Gly667Ala
NM_001204303.1:c.1832G>C	NP_001191232.1:p.Gly611Ala
NM_201413.2:c.2054G>C	NP_958816.1:p.Gly685Ala
NM_201414.2:c.1886G>C	NP_958817.1:p.Gly629Ala
NM_000484.4:c.2111G>C MANE Select	NP_000475.1:p.Gly704Ala
NM_001136129.3:c.1718G>C	NP_001129601.1:p.Gly573Ala
NM_001136130.3:c.1943G>C	NP_001129602.1:p.Gly648Ala
NM_001204301.2:c.2057G>C	NP_001191230.1:p.Gly686Ala
NM_001204302.2:c.2000G>C	NP_001191231.1:p.Gly667Ala
NM_001204303.2:c.1832G>C	NP_001191232.1:p.Gly611Ala
NM_201413.3:c.2054G>C	NP_958816.1:p.Gly685Ala
NM_201414.3:c.1886G>C	NP_958817.1:p.Gly629Ala
NM_001136131.3:c.1781G>C	NP_001129603.1:p.Gly594Ala
NM_001385253.1:c.1943G>C	NP_001372182.1:p.Gly648Ala