Canonical Allele Identifier: CA446206600

Gene: APC

Linked Data

• ClinVar Variation Id: 2093003
• ClinVar RCV Id: RCV003744873
• MyVariant Identifiers: chr5:g.112175872A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112840175A>C , CM000667.2:g.112840175A>C	GRCh38
NC_000005.9:g.112175872A>C , CM000667.1:g.112175872A>C	GRCh37
NC_000005.8:g.112203771A>C	NCBI36
NG_008481.4:g.152655A>C , LRG_130:g.152655A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.4635A>C	ENSP00000473355.2:p.Pro1545=
ENST00000505350.2:c.*4587A>C	ENSP00000481752.1:n.*4587A>C
ENST00000507379.6:c.4527A>C	ENSP00000423224.2:p.Pro1509=
ENST00000509732.6:c.4581A>C	ENSP00000426541.2:p.Pro1527=
ENST00000512211.7:c.4581A>C	ENSP00000423828.3:p.Pro1527=
ENST00000257430.9:c.4581A>C MANE Select	ENSP00000257430.4:p.Pro1527=
ENST00000257430.8:c.4581A>C	ENSP00000257430.4:p.Pro1527=
ENST00000508376.6:c.4581A>C	ENSP00000427089.2:p.Pro1527=
ENST00000508624.5:c.*3903A>C	ENSP00000424265.1:n.*3903A>C
ENST00000520401.1:c.230+11203A>C
NM_000038.5:c.4581A>C	NP_000029.2:p.Pro1527=
NM_001127510.2:c.4581A>C	NP_001120982.1:p.Pro1527=
NM_001127511.2:c.4527A>C	NP_001120983.2:p.Pro1509=
NM_001354895.1:c.4581A>C	NP_001341824.1:p.Pro1527=
NM_001354896.1:c.4635A>C	NP_001341825.1:p.Pro1545=
NM_001354897.1:c.4611A>C	NP_001341826.1:p.Pro1537=
NM_001354898.1:c.4506A>C	NP_001341827.1:p.Pro1502=
NM_001354899.1:c.4497A>C	NP_001341828.1:p.Pro1499=
NM_001354900.1:c.4458A>C	NP_001341829.1:p.Pro1486=
NM_001354901.1:c.4404A>C	NP_001341830.1:p.Pro1468=
NM_001354902.1:c.4308A>C	NP_001341831.1:p.Pro1436=
NM_001354903.1:c.4278A>C	NP_001341832.1:p.Pro1426=
NM_001354904.1:c.4203A>C	NP_001341833.1:p.Pro1401=
NM_001354905.1:c.4101A>C	NP_001341834.1:p.Pro1367=
NM_001354906.1:c.3732A>C	NP_001341835.1:p.Pro1244=
NM_000038.6:c.4581A>C MANE Select	NP_000029.2:p.Pro1527=
NM_001127510.3:c.4581A>C	NP_001120982.1:p.Pro1527=
NM_001127511.3:c.4527A>C	NP_001120983.2:p.Pro1509=
NM_001354895.2:c.4581A>C	NP_001341824.1:p.Pro1527=
NM_001354896.2:c.4635A>C	NP_001341825.1:p.Pro1545=
NM_001354897.2:c.4611A>C	NP_001341826.1:p.Pro1537=
NM_001354898.2:c.4506A>C	NP_001341827.1:p.Pro1502=
NM_001354899.2:c.4497A>C	NP_001341828.1:p.Pro1499=
NM_001354900.2:c.4458A>C	NP_001341829.1:p.Pro1486=
NM_001354901.2:c.4404A>C	NP_001341830.1:p.Pro1468=
NM_001354902.2:c.4308A>C	NP_001341831.1:p.Pro1436=
NM_001354903.2:c.4278A>C	NP_001341832.1:p.Pro1426=
NM_001354904.2:c.4203A>C	NP_001341833.1:p.Pro1401=
NM_001354905.2:c.4101A>C	NP_001341834.1:p.Pro1367=
NM_001354906.2:c.3732A>C	NP_001341835.1:p.Pro1244=