Canonical Allele Identifier: CA16031626

Gene: APC

Linked Data

• ClinVar Variation Id: 2791574
• ClinVar RCV Id: RCV003745794
• dbSNP Id: rs1554086111
• COSMIC: COSM308491
• MyVariant Identifiers: chr5:g.112175987G>A (hg19) ; chr5:g.112840290G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112840290G>A , CM000667.2:g.112840290G>A	GRCh38
NC_000005.9:g.112175987G>A , CM000667.1:g.112175987G>A	GRCh37
NC_000005.8:g.112203886G>A	NCBI36
NG_008481.4:g.152770G>A , LRG_130:g.152770G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.4750G>A	ENSP00000473355.2:p.Asp1584Asn
ENST00000505350.2:c.*4702G>A	ENSP00000481752.1:n.*4702G>A
ENST00000507379.6:c.4642G>A	ENSP00000423224.2:p.Asp1548Asn
ENST00000509732.6:c.4696G>A	ENSP00000426541.2:p.Asp1566Asn
ENST00000512211.7:c.4696G>A	ENSP00000423828.3:p.Asp1566Asn
ENST00000257430.9:c.4696G>A MANE Select	ENSP00000257430.4:p.Asp1566Asn
ENST00000257430.8:c.4696G>A	ENSP00000257430.4:p.Asp1566Asn
ENST00000508376.6:c.4696G>A	ENSP00000427089.2:p.Asp1566Asn
ENST00000508624.5:c.*4018G>A	ENSP00000424265.1:n.*4018G>A
ENST00000520401.1:c.230+11318G>A
NM_000038.5:c.4696G>A	NP_000029.2:p.Asp1566Asn
NM_001127510.2:c.4696G>A	NP_001120982.1:p.Asp1566Asn
NM_001127511.2:c.4642G>A	NP_001120983.2:p.Asp1548Asn
NM_001354895.1:c.4696G>A	NP_001341824.1:p.Asp1566Asn
NM_001354896.1:c.4750G>A	NP_001341825.1:p.Asp1584Asn
NM_001354897.1:c.4726G>A	NP_001341826.1:p.Asp1576Asn
NM_001354898.1:c.4621G>A	NP_001341827.1:p.Asp1541Asn
NM_001354899.1:c.4612G>A	NP_001341828.1:p.Asp1538Asn
NM_001354900.1:c.4573G>A	NP_001341829.1:p.Asp1525Asn
NM_001354901.1:c.4519G>A	NP_001341830.1:p.Asp1507Asn
NM_001354902.1:c.4423G>A	NP_001341831.1:p.Asp1475Asn
NM_001354903.1:c.4393G>A	NP_001341832.1:p.Asp1465Asn
NM_001354904.1:c.4318G>A	NP_001341833.1:p.Asp1440Asn
NM_001354905.1:c.4216G>A	NP_001341834.1:p.Asp1406Asn
NM_001354906.1:c.3847G>A	NP_001341835.1:p.Asp1283Asn
NM_000038.6:c.4696G>A MANE Select	NP_000029.2:p.Asp1566Asn
NM_001127510.3:c.4696G>A	NP_001120982.1:p.Asp1566Asn
NM_001127511.3:c.4642G>A	NP_001120983.2:p.Asp1548Asn
NM_001354895.2:c.4696G>A	NP_001341824.1:p.Asp1566Asn
NM_001354896.2:c.4750G>A	NP_001341825.1:p.Asp1584Asn
NM_001354897.2:c.4726G>A	NP_001341826.1:p.Asp1576Asn
NM_001354898.2:c.4621G>A	NP_001341827.1:p.Asp1541Asn
NM_001354899.2:c.4612G>A	NP_001341828.1:p.Asp1538Asn
NM_001354900.2:c.4573G>A	NP_001341829.1:p.Asp1525Asn
NM_001354901.2:c.4519G>A	NP_001341830.1:p.Asp1507Asn
NM_001354902.2:c.4423G>A	NP_001341831.1:p.Asp1475Asn
NM_001354903.2:c.4393G>A	NP_001341832.1:p.Asp1465Asn
NM_001354904.2:c.4318G>A	NP_001341833.1:p.Asp1440Asn
NM_001354905.2:c.4216G>A	NP_001341834.1:p.Asp1406Asn
NM_001354906.2:c.3847G>A	NP_001341835.1:p.Asp1283Asn