Canonical Allele Identifier: CA16023871

Gene: APC

Linked Data

• MyVariant Identifiers: chr5:g.112154901T>A (hg19) ; chr5:g.112819204T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112819204T>A , CM000667.2:g.112819204T>A	GRCh38
NC_000005.9:g.112154901T>A , CM000667.1:g.112154901T>A	GRCh37
NC_000005.8:g.112182800T>A	NCBI36
NG_008481.4:g.131684T>A , LRG_130:g.131684T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502371.3:c.1172T>A	ENSP00000484935.2:p.Ile391Asn
ENST00000504915.3:c.1172T>A	ENSP00000473355.2:p.Ile391Asn
ENST00000505084.2:n.1228T>A
ENST00000505350.2:c.*1178T>A	ENSP00000481752.1:n.*1178T>A
ENST00000507379.6:c.1118T>A	ENSP00000423224.2:p.Ile373Asn
ENST00000509732.6:c.1172T>A	ENSP00000426541.2:p.Ile391Asn
ENST00000512211.7:c.1172T>A	ENSP00000423828.3:p.Ile391Asn
ENST00000257430.9:c.1172T>A MANE Select	ENSP00000257430.4:p.Ile391Asn
ENST00000257430.8:c.1172T>A	ENSP00000257430.4:p.Ile391Asn
ENST00000507379.5:c.1118T>A	ENSP00000423224.1:p.Ile373Asn
ENST00000508376.6:c.1172T>A	ENSP00000427089.2:p.Ile391Asn
ENST00000508624.5:c.*494T>A	ENSP00000424265.1:n.*494T>A
ENST00000512211.6:c.1172T>A	ENSP00000423828.2:p.Ile391Asn
NM_000038.5:c.1172T>A	NP_000029.2:p.Ile391Asn
NM_001127510.2:c.1172T>A	NP_001120982.1:p.Ile391Asn
NM_001127511.2:c.1118T>A	NP_001120983.2:p.Ile373Asn
NM_001354895.1:c.1172T>A	NP_001341824.1:p.Ile391Asn
NM_001354896.1:c.1172T>A	NP_001341825.1:p.Ile391Asn
NM_001354897.1:c.1202T>A	NP_001341826.1:p.Ile401Asn
NM_001354898.1:c.1097T>A	NP_001341827.1:p.Ile366Asn
NM_001354899.1:c.1088T>A	NP_001341828.1:p.Ile363Asn
NM_001354900.1:c.995T>A	NP_001341829.1:p.Ile332Asn
NM_001354901.1:c.995T>A	NP_001341830.1:p.Ile332Asn
NM_001354902.1:c.964-65T>A	NP_001341831.1:n.964-65T>A
NM_001354903.1:c.934-65T>A	NP_001341832.1:n.934-65T>A
NM_001354904.1:c.859-65T>A	NP_001341833.1:n.859-65T>A
NM_001354905.1:c.757-65T>A	NP_001341834.1:n.757-65T>A
NM_001354906.1:c.323T>A	NP_001341835.1:p.Ile108Asn
NM_000038.6:c.1172T>A MANE Select	NP_000029.2:p.Ile391Asn
NM_001127510.3:c.1172T>A	NP_001120982.1:p.Ile391Asn
NM_001127511.3:c.1118T>A	NP_001120983.2:p.Ile373Asn
NM_001354895.2:c.1172T>A	NP_001341824.1:p.Ile391Asn
NM_001354896.2:c.1172T>A	NP_001341825.1:p.Ile391Asn
NM_001354897.2:c.1202T>A	NP_001341826.1:p.Ile401Asn
NM_001354898.2:c.1097T>A	NP_001341827.1:p.Ile366Asn
NM_001354899.2:c.1088T>A	NP_001341828.1:p.Ile363Asn
NM_001354900.2:c.995T>A	NP_001341829.1:p.Ile332Asn
NM_001354901.2:c.995T>A	NP_001341830.1:p.Ile332Asn
NM_001354902.2:c.964-65T>A	NP_001341831.1:n.964-65T>A
NM_001354903.2:c.934-65T>A	NP_001341832.1:n.934-65T>A
NM_001354904.2:c.859-65T>A	NP_001341833.1:n.859-65T>A
NM_001354905.2:c.757-65T>A	NP_001341834.1:n.757-65T>A
NM_001354906.2:c.323T>A	NP_001341835.1:p.Ile108Asn