Canonical Allele Identifier: CA16031880

Gene: APC

Linked Data

• ClinVar Variation Id: 644157
• ClinVar RCV Id: RCV003535892
• dbSNP Id: rs1580652935
• MyVariant Identifiers: chr5:g.112176105T>C (hg19) ; chr5:g.112840408T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112840408T>C , CM000667.2:g.112840408T>C	GRCh38
NC_000005.9:g.112176105T>C , CM000667.1:g.112176105T>C	GRCh37
NC_000005.8:g.112204004T>C	NCBI36
NG_008481.4:g.152888T>C , LRG_130:g.152888T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000504915.3:c.4868T>C	ENSP00000473355.2:p.Val1623Ala
ENST00000505350.2:c.*4820T>C	ENSP00000481752.1:n.*4820T>C
ENST00000507379.6:c.4760T>C	ENSP00000423224.2:p.Val1587Ala
ENST00000509732.6:c.4814T>C	ENSP00000426541.2:p.Val1605Ala
ENST00000512211.7:c.4814T>C	ENSP00000423828.3:p.Val1605Ala
ENST00000257430.9:c.4814T>C MANE Select	ENSP00000257430.4:p.Val1605Ala
ENST00000257430.8:c.4814T>C	ENSP00000257430.4:p.Val1605Ala
ENST00000508376.6:c.4814T>C	ENSP00000427089.2:p.Val1605Ala
ENST00000508624.5:c.*4136T>C	ENSP00000424265.1:n.*4136T>C
ENST00000520401.1:c.230+11436T>C
NM_000038.5:c.4814T>C	NP_000029.2:p.Val1605Ala
NM_001127510.2:c.4814T>C	NP_001120982.1:p.Val1605Ala
NM_001127511.2:c.4760T>C	NP_001120983.2:p.Val1587Ala
NM_001354895.1:c.4814T>C	NP_001341824.1:p.Val1605Ala
NM_001354896.1:c.4868T>C	NP_001341825.1:p.Val1623Ala
NM_001354897.1:c.4844T>C	NP_001341826.1:p.Val1615Ala
NM_001354898.1:c.4739T>C	NP_001341827.1:p.Val1580Ala
NM_001354899.1:c.4730T>C	NP_001341828.1:p.Val1577Ala
NM_001354900.1:c.4691T>C	NP_001341829.1:p.Val1564Ala
NM_001354901.1:c.4637T>C	NP_001341830.1:p.Val1546Ala
NM_001354902.1:c.4541T>C	NP_001341831.1:p.Val1514Ala
NM_001354903.1:c.4511T>C	NP_001341832.1:p.Val1504Ala
NM_001354904.1:c.4436T>C	NP_001341833.1:p.Val1479Ala
NM_001354905.1:c.4334T>C	NP_001341834.1:p.Val1445Ala
NM_001354906.1:c.3965T>C	NP_001341835.1:p.Val1322Ala
NM_000038.6:c.4814T>C MANE Select	NP_000029.2:p.Val1605Ala
NM_001127510.3:c.4814T>C	NP_001120982.1:p.Val1605Ala
NM_001127511.3:c.4760T>C	NP_001120983.2:p.Val1587Ala
NM_001354895.2:c.4814T>C	NP_001341824.1:p.Val1605Ala
NM_001354896.2:c.4868T>C	NP_001341825.1:p.Val1623Ala
NM_001354897.2:c.4844T>C	NP_001341826.1:p.Val1615Ala
NM_001354898.2:c.4739T>C	NP_001341827.1:p.Val1580Ala
NM_001354899.2:c.4730T>C	NP_001341828.1:p.Val1577Ala
NM_001354900.2:c.4691T>C	NP_001341829.1:p.Val1564Ala
NM_001354901.2:c.4637T>C	NP_001341830.1:p.Val1546Ala
NM_001354902.2:c.4541T>C	NP_001341831.1:p.Val1514Ala
NM_001354903.2:c.4511T>C	NP_001341832.1:p.Val1504Ala
NM_001354904.2:c.4436T>C	NP_001341833.1:p.Val1479Ala
NM_001354905.2:c.4334T>C	NP_001341834.1:p.Val1445Ala
NM_001354906.2:c.3965T>C	NP_001341835.1:p.Val1322Ala