Canonical Allele Identifier: CA637162685

Gene: APP

Linked Data

• dbSNP Id: rs1204293896
• gnomAD v2: 21-27263981-A-C
• gnomAD v4: 21-25891669-A-C
• MyVariant Identifiers: chr21:g.27263981A>C (hg19) ; chr21:g.25891669A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.25891669A>C , CM000683.2:g.25891669A>C	GRCh38
NC_000021.8:g.27263981A>C , CM000683.1:g.27263981A>C	GRCh37
NC_000021.7:g.26185852A>C	NCBI36
NG_007376.1:g.284152T>G
NG_007376.2:g.284460T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000707132.1:n.2178+53T>G
ENST00000707133.1:n.608+53T>G
ENST00000707134.1:n.877+53T>G
ENST00000346798.8:c.2211+53T>G MANE Select	ENSP00000284981.4:n.2211+53T>G
ENST00000346798.7:c.2211+53T>G	ENSP00000284981.4:n.2211+53T>G
ENST00000348990.9:c.1986+53T>G	ENSP00000345463.5:n.1986+53T>G
ENST00000354192.7:c.1818+53T>G	ENSP00000346129.3:n.1818+53T>G
ENST00000357903.7:c.2154+53T>G	ENSP00000350578.3:n.2154+53T>G
ENST00000358918.7:c.2157+53T>G	ENSP00000351796.3:n.2157+53T>G
ENST00000359726.7:c.1881+53T>G	ENSP00000352760.4:n.1881+53T>G
ENST00000439274.6:c.2043+53T>G	ENSP00000398879.2:n.2043+53T>G
ENST00000440126.7:c.2139+53T>G	ENSP00000387483.2:n.2139+53T>G
ENST00000464867.1:n.558+53T>G
NM_000484.3:c.2211+53T>G	NP_000475.1:n.2211+53T>G
NM_001136016.3:c.2139+53T>G	NP_001129488.1:n.2139+53T>G
NM_001136129.2:c.1818+53T>G	NP_001129601.1:n.1818+53T>G
NM_001136130.2:c.2043+53T>G	NP_001129602.1:n.2043+53T>G
NM_001136131.2:c.1881+53T>G	NP_001129603.1:n.1881+53T>G
NM_001204301.1:c.2157+53T>G	NP_001191230.1:n.2157+53T>G
NM_001204302.1:c.2100+53T>G	NP_001191231.1:n.2100+53T>G
NM_001204303.1:c.1932+53T>G	NP_001191232.1:n.1932+53T>G
NM_201413.2:c.2154+53T>G	NP_958816.1:n.2154+53T>G
NM_201414.2:c.1986+53T>G	NP_958817.1:n.1986+53T>G
NM_000484.4:c.2211+53T>G MANE Select	NP_000475.1:n.2211+53T>G
NM_001136129.3:c.1818+53T>G	NP_001129601.1:n.1818+53T>G
NM_001136130.3:c.2043+53T>G	NP_001129602.1:n.2043+53T>G
NM_001204301.2:c.2157+53T>G	NP_001191230.1:n.2157+53T>G
NM_001204302.2:c.2100+53T>G	NP_001191231.1:n.2100+53T>G
NM_001204303.2:c.1932+53T>G	NP_001191232.1:n.1932+53T>G
NM_201413.3:c.2154+53T>G	NP_958816.1:n.2154+53T>G
NM_201414.3:c.1986+53T>G	NP_958817.1:n.1986+53T>G
NM_001136131.3:c.1881+53T>G	NP_001129603.1:n.1881+53T>G
NM_001385253.1:c.2043+53T>G	NP_001372182.1:n.2043+53T>G