Canonical Allele Identifier: CA409805634

Gene: APP

Linked Data

• COSMIC: COSM1029635
• MyVariant Identifiers: chr21:g.27264143G>A (hg19) ; chr21:g.25891831G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.25891831G>A , CM000683.2:g.25891831G>A	GRCh38
NC_000021.8:g.27264143G>A , CM000683.1:g.27264143G>A	GRCh37
NC_000021.7:g.26186014G>A	NCBI36
NG_007376.1:g.283990C>T
NG_007376.2:g.284298C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000707132.1:n.2069C>T
ENST00000707133.1:n.499C>T
ENST00000707134.1:n.768C>T
ENST00000346798.8:c.2102C>T MANE Select	ENSP00000284981.4:p.Ala701Val
ENST00000346798.7:c.2102C>T	ENSP00000284981.4:p.Ala701Val
ENST00000348990.9:c.1877C>T	ENSP00000345463.5:p.Ala626Val
ENST00000354192.7:c.1709C>T	ENSP00000346129.3:p.Ala570Val
ENST00000357903.7:c.2045C>T	ENSP00000350578.3:p.Ala682Val
ENST00000358918.7:c.2048C>T	ENSP00000351796.3:p.Ala683Val
ENST00000359726.7:c.1772C>T	ENSP00000352760.4:p.Ala591Val
ENST00000439274.6:c.1934C>T	ENSP00000398879.2:p.Ala645Val
ENST00000440126.7:c.2030C>T	ENSP00000387483.2:p.Ala677Val
ENST00000464867.1:n.449C>T
NM_000484.3:c.2102C>T	NP_000475.1:p.Ala701Val
NM_001136016.3:c.2030C>T	NP_001129488.1:p.Ala677Val
NM_001136129.2:c.1709C>T	NP_001129601.1:p.Ala570Val
NM_001136130.2:c.1934C>T	NP_001129602.1:p.Ala645Val
NM_001136131.2:c.1772C>T	NP_001129603.1:p.Ala591Val
NM_001204301.1:c.2048C>T	NP_001191230.1:p.Ala683Val
NM_001204302.1:c.1991C>T	NP_001191231.1:p.Ala664Val
NM_001204303.1:c.1823C>T	NP_001191232.1:p.Ala608Val
NM_201413.2:c.2045C>T	NP_958816.1:p.Ala682Val
NM_201414.2:c.1877C>T	NP_958817.1:p.Ala626Val
NM_000484.4:c.2102C>T MANE Select	NP_000475.1:p.Ala701Val
NM_001136129.3:c.1709C>T	NP_001129601.1:p.Ala570Val
NM_001136130.3:c.1934C>T	NP_001129602.1:p.Ala645Val
NM_001204301.2:c.2048C>T	NP_001191230.1:p.Ala683Val
NM_001204302.2:c.1991C>T	NP_001191231.1:p.Ala664Val
NM_001204303.2:c.1823C>T	NP_001191232.1:p.Ala608Val
NM_201413.3:c.2045C>T	NP_958816.1:p.Ala682Val
NM_201414.3:c.1877C>T	NP_958817.1:p.Ala626Val
NM_001136131.3:c.1772C>T	NP_001129603.1:p.Ala591Val
NM_001385253.1:c.1934C>T	NP_001372182.1:p.Ala645Val