Canonical Allele Identifier: CA279777

Gene: APC

Linked Data

• ClinVar Variation Id: 217931
• ClinVar RCV Id: RCV000202184 ; RCV003335200
• dbSNP Id: rs863225316
• MyVariant Identifiers: chr5:g.112163625G>A (hg19) ; chr5:g.112827928G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112827928G>A , CM000667.2:g.112827928G>A	GRCh38
NC_000005.9:g.112163625G>A , CM000667.1:g.112163625G>A	GRCh37
NC_000005.8:g.112191524G>A	NCBI36
NG_008481.4:g.140408G>A , LRG_130:g.140408G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502371.3:c.1408+5937G>A	ENSP00000484935.2:n.1408+5937G>A
ENST00000504915.3:c.1603-1G>A	ENSP00000473355.2:n.1603-1G>A
ENST00000505084.2:n.1605-1G>A
ENST00000505350.2:c.*1555-1G>A	ENSP00000481752.1:n.*1555-1G>A
ENST00000507379.6:c.1495-1G>A	ENSP00000423224.2:n.1495-1G>A
ENST00000509732.6:c.1549-1G>A	ENSP00000426541.2:n.1549-1G>A
ENST00000512211.7:c.1549-1G>A	ENSP00000423828.3:n.1549-1G>A
ENST00000257430.9:c.1549-1G>A MANE Select	ENSP00000257430.4:n.1549-1G>A
ENST00000257430.8:c.1549-1G>A	ENSP00000257430.4:n.1549-1G>A
ENST00000502371.2:c.96+5937G>A
ENST00000504915.2:c.238-1G>A	ENSP00000473355.1:n.238-1G>A
ENST00000505084.1:n.36-1G>A
ENST00000507379.5:c.1495-1G>A	ENSP00000423224.1:n.1495-1G>A
ENST00000508376.6:c.1549-1G>A	ENSP00000427089.2:n.1549-1G>A
ENST00000508624.5:c.*871-1G>A	ENSP00000424265.1:n.*871-1G>A
ENST00000512211.6:c.1549-1G>A	ENSP00000423828.2:n.1549-1G>A
ENST00000520401.1:c.36-1G>A
NM_000038.5:c.1549-1G>A	NP_000029.2:n.1549-1G>A
NM_001127510.2:c.1549-1G>A	NP_001120982.1:n.1549-1G>A
NM_001127511.2:c.1495-1G>A	NP_001120983.2:n.1495-1G>A
NM_001354895.1:c.1549-1G>A	NP_001341824.1:n.1549-1G>A
NM_001354896.1:c.1603-1G>A	NP_001341825.1:n.1603-1G>A
NM_001354897.1:c.1579-1G>A	NP_001341826.1:n.1579-1G>A
NM_001354898.1:c.1474-1G>A	NP_001341827.1:n.1474-1G>A
NM_001354899.1:c.1465-1G>A	NP_001341828.1:n.1465-1G>A
NM_001354900.1:c.1426-1G>A	NP_001341829.1:n.1426-1G>A
NM_001354901.1:c.1372-1G>A	NP_001341830.1:n.1372-1G>A
NM_001354902.1:c.1276-1G>A	NP_001341831.1:n.1276-1G>A
NM_001354903.1:c.1246-1G>A	NP_001341832.1:n.1246-1G>A
NM_001354904.1:c.1171-1G>A	NP_001341833.1:n.1171-1G>A
NM_001354905.1:c.1069-1G>A	NP_001341834.1:n.1069-1G>A
NM_001354906.1:c.700-1G>A	NP_001341835.1:n.700-1G>A
NM_000038.6:c.1549-1G>A MANE Select	NP_000029.2:n.1549-1G>A
NM_001127510.3:c.1549-1G>A	NP_001120982.1:n.1549-1G>A
NM_001127511.3:c.1495-1G>A	NP_001120983.2:n.1495-1G>A
NM_001354895.2:c.1549-1G>A	NP_001341824.1:n.1549-1G>A
NM_001354896.2:c.1603-1G>A	NP_001341825.1:n.1603-1G>A
NM_001354897.2:c.1579-1G>A	NP_001341826.1:n.1579-1G>A
NM_001354898.2:c.1474-1G>A	NP_001341827.1:n.1474-1G>A
NM_001354899.2:c.1465-1G>A	NP_001341828.1:n.1465-1G>A
NM_001354900.2:c.1426-1G>A	NP_001341829.1:n.1426-1G>A
NM_001354901.2:c.1372-1G>A	NP_001341830.1:n.1372-1G>A
NM_001354902.2:c.1276-1G>A	NP_001341831.1:n.1276-1G>A
NM_001354903.2:c.1246-1G>A	NP_001341832.1:n.1246-1G>A
NM_001354904.2:c.1171-1G>A	NP_001341833.1:n.1171-1G>A
NM_001354905.2:c.1069-1G>A	NP_001341834.1:n.1069-1G>A
NM_001354906.2:c.700-1G>A	NP_001341835.1:n.700-1G>A