Canonical Allele Identifier: CA409806378

Gene: APP

Linked Data

• dbSNP Id: rs1555890516
• gnomAD v4: 21-25897611-G-A
• MyVariant Identifiers: chr21:g.27269923G>A (hg19) ; chr21:g.25897611G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.25897611G>A , CM000683.2:g.25897611G>A	GRCh38
NC_000021.8:g.27269923G>A , CM000683.1:g.27269923G>A	GRCh37
NC_000021.7:g.26191794G>A	NCBI36
NG_007376.1:g.278210C>T
NG_007376.2:g.278518C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000707132.1:n.1993C>T
ENST00000707133.1:n.423C>T
ENST00000707134.1:n.692C>T
ENST00000346798.8:c.2026C>T MANE Select	ENSP00000284981.4:p.Arg676Ter
ENST00000346798.7:c.2026C>T	ENSP00000284981.4:p.Arg676Ter
ENST00000348990.9:c.1801C>T	ENSP00000345463.5:p.Arg601Ter
ENST00000354192.7:c.1633C>T	ENSP00000346129.3:p.Arg545Ter
ENST00000357903.7:c.1969C>T	ENSP00000350578.3:p.Arg657Ter
ENST00000358918.7:c.1972C>T	ENSP00000351796.3:p.Arg658Ter
ENST00000359726.7:c.1696C>T	ENSP00000352760.4:p.Arg566Ter
ENST00000439274.6:c.1858C>T	ENSP00000398879.2:p.Arg620Ter
ENST00000440126.7:c.1954C>T	ENSP00000387483.2:p.Arg652Ter
ENST00000464867.1:n.373C>T
NM_000484.3:c.2026C>T	NP_000475.1:p.Arg676Ter
NM_001136016.3:c.1954C>T	NP_001129488.1:p.Arg652Ter
NM_001136129.2:c.1633C>T	NP_001129601.1:p.Arg545Ter
NM_001136130.2:c.1858C>T	NP_001129602.1:p.Arg620Ter
NM_001136131.2:c.1696C>T	NP_001129603.1:p.Arg566Ter
NM_001204301.1:c.1972C>T	NP_001191230.1:p.Arg658Ter
NM_001204302.1:c.1915C>T	NP_001191231.1:p.Arg639Ter
NM_001204303.1:c.1747C>T	NP_001191232.1:p.Arg583Ter
NM_201413.2:c.1969C>T	NP_958816.1:p.Arg657Ter
NM_201414.2:c.1801C>T	NP_958817.1:p.Arg601Ter
NM_000484.4:c.2026C>T MANE Select	NP_000475.1:p.Arg676Ter
NM_001136129.3:c.1633C>T	NP_001129601.1:p.Arg545Ter
NM_001136130.3:c.1858C>T	NP_001129602.1:p.Arg620Ter
NM_001204301.2:c.1972C>T	NP_001191230.1:p.Arg658Ter
NM_001204302.2:c.1915C>T	NP_001191231.1:p.Arg639Ter
NM_001204303.2:c.1747C>T	NP_001191232.1:p.Arg583Ter
NM_201413.3:c.1969C>T	NP_958816.1:p.Arg657Ter
NM_201414.3:c.1801C>T	NP_958817.1:p.Arg601Ter
NM_001136131.3:c.1696C>T	NP_001129603.1:p.Arg566Ter
NM_001385253.1:c.1858C>T	NP_001372182.1:p.Arg620Ter