Canonical Allele Identifier: CA409805627

Gene: APP

Linked Data

• ClinVar Variation Id: 1912162
• ClinVar RCV Id: RCV002578767
• gnomAD v4: 21-25891827-G-C
• MyVariant Identifiers: chr21:g.27264139G>C (hg19) ; chr21:g.25891827G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.25891827G>C , CM000683.2:g.25891827G>C	GRCh38
NC_000021.8:g.27264139G>C , CM000683.1:g.27264139G>C	GRCh37
NC_000021.7:g.26186010G>C	NCBI36
NG_007376.1:g.283994C>G
NG_007376.2:g.284302C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000707132.1:n.2073C>G
ENST00000707133.1:n.503C>G
ENST00000707134.1:n.772C>G
ENST00000346798.8:c.2106C>G MANE Select	ENSP00000284981.4:p.Ile702Met
ENST00000346798.7:c.2106C>G	ENSP00000284981.4:p.Ile702Met
ENST00000348990.9:c.1881C>G	ENSP00000345463.5:p.Ile627Met
ENST00000354192.7:c.1713C>G	ENSP00000346129.3:p.Ile571Met
ENST00000357903.7:c.2049C>G	ENSP00000350578.3:p.Ile683Met
ENST00000358918.7:c.2052C>G	ENSP00000351796.3:p.Ile684Met
ENST00000359726.7:c.1776C>G	ENSP00000352760.4:p.Ile592Met
ENST00000439274.6:c.1938C>G	ENSP00000398879.2:p.Ile646Met
ENST00000440126.7:c.2034C>G	ENSP00000387483.2:p.Ile678Met
ENST00000464867.1:n.453C>G
NM_000484.3:c.2106C>G	NP_000475.1:p.Ile702Met
NM_001136016.3:c.2034C>G	NP_001129488.1:p.Ile678Met
NM_001136129.2:c.1713C>G	NP_001129601.1:p.Ile571Met
NM_001136130.2:c.1938C>G	NP_001129602.1:p.Ile646Met
NM_001136131.2:c.1776C>G	NP_001129603.1:p.Ile592Met
NM_001204301.1:c.2052C>G	NP_001191230.1:p.Ile684Met
NM_001204302.1:c.1995C>G	NP_001191231.1:p.Ile665Met
NM_001204303.1:c.1827C>G	NP_001191232.1:p.Ile609Met
NM_201413.2:c.2049C>G	NP_958816.1:p.Ile683Met
NM_201414.2:c.1881C>G	NP_958817.1:p.Ile627Met
NM_000484.4:c.2106C>G MANE Select	NP_000475.1:p.Ile702Met
NM_001136129.3:c.1713C>G	NP_001129601.1:p.Ile571Met
NM_001136130.3:c.1938C>G	NP_001129602.1:p.Ile646Met
NM_001204301.2:c.2052C>G	NP_001191230.1:p.Ile684Met
NM_001204302.2:c.1995C>G	NP_001191231.1:p.Ile665Met
NM_001204303.2:c.1827C>G	NP_001191232.1:p.Ile609Met
NM_201413.3:c.2049C>G	NP_958816.1:p.Ile683Met
NM_201414.3:c.1881C>G	NP_958817.1:p.Ile627Met
NM_001136131.3:c.1776C>G	NP_001129603.1:p.Ile592Met
NM_001385253.1:c.1938C>G	NP_001372182.1:p.Ile646Met