Canonical Allele Identifier: CA16024232

Gene: APC

Linked Data

• ClinVar Variation Id: 1390415
• ClinVar RCV Id: RCV003745409
• dbSNP Id: rs1274585798
• MyVariant Identifiers: chr5:g.112157617T>A (hg19) ; chr5:g.112821920T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112821920T>A , CM000667.2:g.112821920T>A	GRCh38
NC_000005.9:g.112157617T>A , CM000667.1:g.112157617T>A	GRCh37
NC_000005.8:g.112185516T>A	NCBI36
NG_008481.4:g.134400T>A , LRG_130:g.134400T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502371.3:c.1337T>A	ENSP00000484935.2:p.Ile446Asn
ENST00000504915.3:c.1337T>A	ENSP00000473355.2:p.Ile446Asn
ENST00000505084.2:n.1393T>A
ENST00000505350.2:c.*1343T>A	ENSP00000481752.1:n.*1343T>A
ENST00000507379.6:c.1283T>A	ENSP00000423224.2:p.Ile428Asn
ENST00000509732.6:c.1337T>A	ENSP00000426541.2:p.Ile446Asn
ENST00000512211.7:c.1337T>A	ENSP00000423828.3:p.Ile446Asn
ENST00000257430.9:c.1337T>A MANE Select	ENSP00000257430.4:p.Ile446Asn
ENST00000257430.8:c.1337T>A	ENSP00000257430.4:p.Ile446Asn
ENST00000502371.2:c.25T>A
ENST00000507379.5:c.1283T>A	ENSP00000423224.1:p.Ile428Asn
ENST00000508376.6:c.1337T>A	ENSP00000427089.2:p.Ile446Asn
ENST00000508624.5:c.*659T>A	ENSP00000424265.1:n.*659T>A
ENST00000512211.6:c.1337T>A	ENSP00000423828.2:p.Ile446Asn
NM_000038.5:c.1337T>A	NP_000029.2:p.Ile446Asn
NM_001127510.2:c.1337T>A	NP_001120982.1:p.Ile446Asn
NM_001127511.2:c.1283T>A	NP_001120983.2:p.Ile428Asn
NM_001354895.1:c.1337T>A	NP_001341824.1:p.Ile446Asn
NM_001354896.1:c.1337T>A	NP_001341825.1:p.Ile446Asn
NM_001354897.1:c.1367T>A	NP_001341826.1:p.Ile456Asn
NM_001354898.1:c.1262T>A	NP_001341827.1:p.Ile421Asn
NM_001354899.1:c.1253T>A	NP_001341828.1:p.Ile418Asn
NM_001354900.1:c.1160T>A	NP_001341829.1:p.Ile387Asn
NM_001354901.1:c.1160T>A	NP_001341830.1:p.Ile387Asn
NM_001354902.1:c.1064T>A	NP_001341831.1:p.Ile355Asn
NM_001354903.1:c.1034T>A	NP_001341832.1:p.Ile345Asn
NM_001354904.1:c.959T>A	NP_001341833.1:p.Ile320Asn
NM_001354905.1:c.857T>A	NP_001341834.1:p.Ile286Asn
NM_001354906.1:c.488T>A	NP_001341835.1:p.Ile163Asn
NM_000038.6:c.1337T>A MANE Select	NP_000029.2:p.Ile446Asn
NM_001127510.3:c.1337T>A	NP_001120982.1:p.Ile446Asn
NM_001127511.3:c.1283T>A	NP_001120983.2:p.Ile428Asn
NM_001354895.2:c.1337T>A	NP_001341824.1:p.Ile446Asn
NM_001354896.2:c.1337T>A	NP_001341825.1:p.Ile446Asn
NM_001354897.2:c.1367T>A	NP_001341826.1:p.Ile456Asn
NM_001354898.2:c.1262T>A	NP_001341827.1:p.Ile421Asn
NM_001354899.2:c.1253T>A	NP_001341828.1:p.Ile418Asn
NM_001354900.2:c.1160T>A	NP_001341829.1:p.Ile387Asn
NM_001354901.2:c.1160T>A	NP_001341830.1:p.Ile387Asn
NM_001354902.2:c.1064T>A	NP_001341831.1:p.Ile355Asn
NM_001354903.2:c.1034T>A	NP_001341832.1:p.Ile345Asn
NM_001354904.2:c.959T>A	NP_001341833.1:p.Ile320Asn
NM_001354905.2:c.857T>A	NP_001341834.1:p.Ile286Asn
NM_001354906.2:c.488T>A	NP_001341835.1:p.Ile163Asn