Canonical Allele Identifier: CA409806473

Gene: APP

Linked Data

• ClinVar Variation Id: 2684330
• ClinVar RCV Id: RCV003482826
• dbSNP Id: rs1259157720
• gnomAD v2: 21-27269944-C-T
• gnomAD v3: 21-25897632-C-T
• gnomAD v4: 21-25897632-C-T
• MyVariant Identifiers: chr21:g.27269944C>T (hg19) ; chr21:g.25897632C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.25897632C>T , CM000683.2:g.25897632C>T	GRCh38
NC_000021.8:g.27269944C>T , CM000683.1:g.27269944C>T	GRCh37
NC_000021.7:g.26191815C>T	NCBI36
NG_007376.1:g.278189G>A
NG_007376.2:g.278497G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000707132.1:n.1972G>A
ENST00000707133.1:n.402G>A
ENST00000707134.1:n.671G>A
ENST00000346798.8:c.2005G>A MANE Select	ENSP00000284981.4:p.Val669Met
ENST00000346798.7:c.2005G>A	ENSP00000284981.4:p.Val669Met
ENST00000348990.9:c.1780G>A	ENSP00000345463.5:p.Val594Met
ENST00000354192.7:c.1612G>A	ENSP00000346129.3:p.Val538Met
ENST00000357903.7:c.1948G>A	ENSP00000350578.3:p.Val650Met
ENST00000358918.7:c.1951G>A	ENSP00000351796.3:p.Val651Met
ENST00000359726.7:c.1675G>A	ENSP00000352760.4:p.Val559Met
ENST00000439274.6:c.1837G>A	ENSP00000398879.2:p.Val613Met
ENST00000440126.7:c.1933G>A	ENSP00000387483.2:p.Val645Met
ENST00000464867.1:n.352G>A
NM_000484.3:c.2005G>A	NP_000475.1:p.Val669Met
NM_001136016.3:c.1933G>A	NP_001129488.1:p.Val645Met
NM_001136129.2:c.1612G>A	NP_001129601.1:p.Val538Met
NM_001136130.2:c.1837G>A	NP_001129602.1:p.Val613Met
NM_001136131.2:c.1675G>A	NP_001129603.1:p.Val559Met
NM_001204301.1:c.1951G>A	NP_001191230.1:p.Val651Met
NM_001204302.1:c.1894G>A	NP_001191231.1:p.Val632Met
NM_001204303.1:c.1726G>A	NP_001191232.1:p.Val576Met
NM_201413.2:c.1948G>A	NP_958816.1:p.Val650Met
NM_201414.2:c.1780G>A	NP_958817.1:p.Val594Met
NM_000484.4:c.2005G>A MANE Select	NP_000475.1:p.Val669Met
NM_001136129.3:c.1612G>A	NP_001129601.1:p.Val538Met
NM_001136130.3:c.1837G>A	NP_001129602.1:p.Val613Met
NM_001204301.2:c.1951G>A	NP_001191230.1:p.Val651Met
NM_001204302.2:c.1894G>A	NP_001191231.1:p.Val632Met
NM_001204303.2:c.1726G>A	NP_001191232.1:p.Val576Met
NM_201413.3:c.1948G>A	NP_958816.1:p.Val650Met
NM_201414.3:c.1780G>A	NP_958817.1:p.Val594Met
NM_001136131.3:c.1675G>A	NP_001129603.1:p.Val559Met
NM_001385253.1:c.1837G>A	NP_001372182.1:p.Val613Met