Canonical Allele Identifier: CA319103384

Gene: APP

Linked Data

• dbSNP Id: rs148754993
• gnomAD v4: 21-25897598-C-A
• MyVariant Identifiers: chr21:g.27269910C>A (hg19) ; chr21:g.25897598C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.25897598C>A , CM000683.2:g.25897598C>A	GRCh38
NC_000021.8:g.27269910C>A , CM000683.1:g.27269910C>A	GRCh37
NC_000021.7:g.26191781C>A	NCBI36
NG_007376.1:g.278223G>T
NG_007376.2:g.278531G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000707132.1:n.2006G>T
ENST00000707133.1:n.436G>T
ENST00000707134.1:n.705G>T
ENST00000346798.8:c.2039G>T MANE Select	ENSP00000284981.4:p.Gly680Val
ENST00000346798.7:c.2039G>T	ENSP00000284981.4:p.Gly680Val
ENST00000348990.9:c.1814G>T	ENSP00000345463.5:p.Gly605Val
ENST00000354192.7:c.1646G>T	ENSP00000346129.3:p.Gly549Val
ENST00000357903.7:c.1982G>T	ENSP00000350578.3:p.Gly661Val
ENST00000358918.7:c.1985G>T	ENSP00000351796.3:p.Gly662Val
ENST00000359726.7:c.1709G>T	ENSP00000352760.4:p.Gly570Val
ENST00000439274.6:c.1871G>T	ENSP00000398879.2:p.Gly624Val
ENST00000440126.7:c.1967G>T	ENSP00000387483.2:p.Gly656Val
ENST00000464867.1:n.386G>T
NM_000484.3:c.2039G>T	NP_000475.1:p.Gly680Val
NM_001136016.3:c.1967G>T	NP_001129488.1:p.Gly656Val
NM_001136129.2:c.1646G>T	NP_001129601.1:p.Gly549Val
NM_001136130.2:c.1871G>T	NP_001129602.1:p.Gly624Val
NM_001136131.2:c.1709G>T	NP_001129603.1:p.Gly570Val
NM_001204301.1:c.1985G>T	NP_001191230.1:p.Gly662Val
NM_001204302.1:c.1928G>T	NP_001191231.1:p.Gly643Val
NM_001204303.1:c.1760G>T	NP_001191232.1:p.Gly587Val
NM_201413.2:c.1982G>T	NP_958816.1:p.Gly661Val
NM_201414.2:c.1814G>T	NP_958817.1:p.Gly605Val
NM_000484.4:c.2039G>T MANE Select	NP_000475.1:p.Gly680Val
NM_001136129.3:c.1646G>T	NP_001129601.1:p.Gly549Val
NM_001136130.3:c.1871G>T	NP_001129602.1:p.Gly624Val
NM_001204301.2:c.1985G>T	NP_001191230.1:p.Gly662Val
NM_001204302.2:c.1928G>T	NP_001191231.1:p.Gly643Val
NM_001204303.2:c.1760G>T	NP_001191232.1:p.Gly587Val
NM_201413.3:c.1982G>T	NP_958816.1:p.Gly661Val
NM_201414.3:c.1814G>T	NP_958817.1:p.Gly605Val
NM_001136131.3:c.1709G>T	NP_001129603.1:p.Gly570Val
NM_001385253.1:c.1871G>T	NP_001372182.1:p.Gly624Val