Canonical Allele Identifier: CA409806581

Gene: APP

Linked Data

• dbSNP Id: rs2038166861
• gnomAD v3: 21-25897667-C-G
• gnomAD v4: 21-25897667-C-G
• MyVariant Identifiers: chr21:g.27269979C>G (hg19) ; chr21:g.25897667C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.25897667C>G , CM000683.2:g.25897667C>G	GRCh38
NC_000021.8:g.27269979C>G , CM000683.1:g.27269979C>G	GRCh37
NC_000021.7:g.26191850C>G	NCBI36
NG_007376.1:g.278154G>C
NG_007376.2:g.278462G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000707132.1:n.1937G>C
ENST00000707133.1:n.367G>C
ENST00000707134.1:n.636G>C
ENST00000346798.8:c.1970G>C MANE Select	ENSP00000284981.4:p.Gly657Ala
ENST00000346798.7:c.1970G>C	ENSP00000284981.4:p.Gly657Ala
ENST00000348990.9:c.1745G>C	ENSP00000345463.5:p.Gly582Ala
ENST00000354192.7:c.1577G>C	ENSP00000346129.3:p.Gly526Ala
ENST00000357903.7:c.1913G>C	ENSP00000350578.3:p.Gly638Ala
ENST00000358918.7:c.1916G>C	ENSP00000351796.3:p.Gly639Ala
ENST00000359726.7:c.1640G>C	ENSP00000352760.4:p.Gly547Ala
ENST00000439274.6:c.1802G>C	ENSP00000398879.2:p.Gly601Ala
ENST00000440126.7:c.1898G>C	ENSP00000387483.2:p.Gly633Ala
ENST00000464867.1:n.317G>C
NM_000484.3:c.1970G>C	NP_000475.1:p.Gly657Ala
NM_001136016.3:c.1898G>C	NP_001129488.1:p.Gly633Ala
NM_001136129.2:c.1577G>C	NP_001129601.1:p.Gly526Ala
NM_001136130.2:c.1802G>C	NP_001129602.1:p.Gly601Ala
NM_001136131.2:c.1640G>C	NP_001129603.1:p.Gly547Ala
NM_001204301.1:c.1916G>C	NP_001191230.1:p.Gly639Ala
NM_001204302.1:c.1859G>C	NP_001191231.1:p.Gly620Ala
NM_001204303.1:c.1691G>C	NP_001191232.1:p.Gly564Ala
NM_201413.2:c.1913G>C	NP_958816.1:p.Gly638Ala
NM_201414.2:c.1745G>C	NP_958817.1:p.Gly582Ala
NM_000484.4:c.1970G>C MANE Select	NP_000475.1:p.Gly657Ala
NM_001136129.3:c.1577G>C	NP_001129601.1:p.Gly526Ala
NM_001136130.3:c.1802G>C	NP_001129602.1:p.Gly601Ala
NM_001204301.2:c.1916G>C	NP_001191230.1:p.Gly639Ala
NM_001204302.2:c.1859G>C	NP_001191231.1:p.Gly620Ala
NM_001204303.2:c.1691G>C	NP_001191232.1:p.Gly564Ala
NM_201413.3:c.1913G>C	NP_958816.1:p.Gly638Ala
NM_201414.3:c.1745G>C	NP_958817.1:p.Gly582Ala
NM_001136131.3:c.1640G>C	NP_001129603.1:p.Gly547Ala
NM_001385253.1:c.1802G>C	NP_001372182.1:p.Gly601Ala