Canonical Allele Identifier: CA409805676

Gene: APP

Linked Data

• MyVariant Identifiers: chr21:g.27264162C>A (hg19) ; chr21:g.25891850C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.25891850C>A , CM000683.2:g.25891850C>A	GRCh38
NC_000021.8:g.27264162C>A , CM000683.1:g.27264162C>A	GRCh37
NC_000021.7:g.26186033C>A	NCBI36
NG_007376.1:g.283971G>T
NG_007376.2:g.284279G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000707132.1:n.2050G>T
ENST00000707133.1:n.480G>T
ENST00000707134.1:n.749G>T
ENST00000346798.8:c.2083G>T MANE Select	ENSP00000284981.4:p.Val695Leu
ENST00000346798.7:c.2083G>T	ENSP00000284981.4:p.Val695Leu
ENST00000348990.9:c.1858G>T	ENSP00000345463.5:p.Val620Leu
ENST00000354192.7:c.1690G>T	ENSP00000346129.3:p.Val564Leu
ENST00000357903.7:c.2026G>T	ENSP00000350578.3:p.Val676Leu
ENST00000358918.7:c.2029G>T	ENSP00000351796.3:p.Val677Leu
ENST00000359726.7:c.1753G>T	ENSP00000352760.4:p.Val585Leu
ENST00000439274.6:c.1915G>T	ENSP00000398879.2:p.Val639Leu
ENST00000440126.7:c.2011G>T	ENSP00000387483.2:p.Val671Leu
ENST00000464867.1:n.430G>T
NM_000484.3:c.2083G>T	NP_000475.1:p.Val695Leu
NM_001136016.3:c.2011G>T	NP_001129488.1:p.Val671Leu
NM_001136129.2:c.1690G>T	NP_001129601.1:p.Val564Leu
NM_001136130.2:c.1915G>T	NP_001129602.1:p.Val639Leu
NM_001136131.2:c.1753G>T	NP_001129603.1:p.Val585Leu
NM_001204301.1:c.2029G>T	NP_001191230.1:p.Val677Leu
NM_001204302.1:c.1972G>T	NP_001191231.1:p.Val658Leu
NM_001204303.1:c.1804G>T	NP_001191232.1:p.Val602Leu
NM_201413.2:c.2026G>T	NP_958816.1:p.Val676Leu
NM_201414.2:c.1858G>T	NP_958817.1:p.Val620Leu
NM_000484.4:c.2083G>T MANE Select	NP_000475.1:p.Val695Leu
NM_001136129.3:c.1690G>T	NP_001129601.1:p.Val564Leu
NM_001136130.3:c.1915G>T	NP_001129602.1:p.Val639Leu
NM_001204301.2:c.2029G>T	NP_001191230.1:p.Val677Leu
NM_001204302.2:c.1972G>T	NP_001191231.1:p.Val658Leu
NM_001204303.2:c.1804G>T	NP_001191232.1:p.Val602Leu
NM_201413.3:c.2026G>T	NP_958816.1:p.Val676Leu
NM_201414.3:c.1858G>T	NP_958817.1:p.Val620Leu
NM_001136131.3:c.1753G>T	NP_001129603.1:p.Val585Leu
NM_001385253.1:c.1915G>T	NP_001372182.1:p.Val639Leu