Canonical Allele Identifier: CA9987097

Gene: APP

Linked Data

• dbSNP Id: rs758809412
• ExAC: 21:27269943 A / G
• gnomAD v2: 21-27269943-A-G
• gnomAD v4: 21-25897631-A-G
• MyVariant Identifiers: chr21:g.27269943A>G (hg19) ; chr21:g.25897631A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.25897631A>G , CM000683.2:g.25897631A>G	GRCh38
NC_000021.8:g.27269943A>G , CM000683.1:g.27269943A>G	GRCh37
NC_000021.7:g.26191814A>G	NCBI36
NG_007376.1:g.278190T>C
NG_007376.2:g.278498T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000707132.1:n.1973T>C
ENST00000707133.1:n.403T>C
ENST00000707134.1:n.672T>C
ENST00000346798.8:c.2006T>C MANE Select	ENSP00000284981.4:p.Val669Ala
ENST00000346798.7:c.2006T>C	ENSP00000284981.4:p.Val669Ala
ENST00000348990.9:c.1781T>C	ENSP00000345463.5:p.Val594Ala
ENST00000354192.7:c.1613T>C	ENSP00000346129.3:p.Val538Ala
ENST00000357903.7:c.1949T>C	ENSP00000350578.3:p.Val650Ala
ENST00000358918.7:c.1952T>C	ENSP00000351796.3:p.Val651Ala
ENST00000359726.7:c.1676T>C	ENSP00000352760.4:p.Val559Ala
ENST00000439274.6:c.1838T>C	ENSP00000398879.2:p.Val613Ala
ENST00000440126.7:c.1934T>C	ENSP00000387483.2:p.Val645Ala
ENST00000464867.1:n.353T>C
NM_000484.3:c.2006T>C	NP_000475.1:p.Val669Ala
NM_001136016.3:c.1934T>C	NP_001129488.1:p.Val645Ala
NM_001136129.2:c.1613T>C	NP_001129601.1:p.Val538Ala
NM_001136130.2:c.1838T>C	NP_001129602.1:p.Val613Ala
NM_001136131.2:c.1676T>C	NP_001129603.1:p.Val559Ala
NM_001204301.1:c.1952T>C	NP_001191230.1:p.Val651Ala
NM_001204302.1:c.1895T>C	NP_001191231.1:p.Val632Ala
NM_001204303.1:c.1727T>C	NP_001191232.1:p.Val576Ala
NM_201413.2:c.1949T>C	NP_958816.1:p.Val650Ala
NM_201414.2:c.1781T>C	NP_958817.1:p.Val594Ala
NM_000484.4:c.2006T>C MANE Select	NP_000475.1:p.Val669Ala
NM_001136129.3:c.1613T>C	NP_001129601.1:p.Val538Ala
NM_001136130.3:c.1838T>C	NP_001129602.1:p.Val613Ala
NM_001204301.2:c.1952T>C	NP_001191230.1:p.Val651Ala
NM_001204302.2:c.1895T>C	NP_001191231.1:p.Val632Ala
NM_001204303.2:c.1727T>C	NP_001191232.1:p.Val576Ala
NM_201413.3:c.1949T>C	NP_958816.1:p.Val650Ala
NM_201414.3:c.1781T>C	NP_958817.1:p.Val594Ala
NM_001136131.3:c.1676T>C	NP_001129603.1:p.Val559Ala
NM_001385253.1:c.1838T>C	NP_001372182.1:p.Val613Ala