Canonical Allele Identifier: CA16031433

Gene: APC

Linked Data

• ClinVar Variation Id: 2994916
• ClinVar RCV Id: RCV003858539
• dbSNP Id: rs1554086003
• MyVariant Identifiers: chr5:g.112175903G>A (hg19) ; chr5:g.112840206G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112840206G>A , CM000667.2:g.112840206G>A	GRCh38
NC_000005.9:g.112175903G>A , CM000667.1:g.112175903G>A	GRCh37
NC_000005.8:g.112203802G>A	NCBI36
NG_008481.4:g.152686G>A , LRG_130:g.152686G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.4666G>A	ENSP00000473355.2:p.Glu1556Lys
ENST00000505350.2:c.*4618G>A	ENSP00000481752.1:n.*4618G>A
ENST00000507379.6:c.4558G>A	ENSP00000423224.2:p.Glu1520Lys
ENST00000509732.6:c.4612G>A	ENSP00000426541.2:p.Glu1538Lys
ENST00000512211.7:c.4612G>A	ENSP00000423828.3:p.Glu1538Lys
ENST00000257430.9:c.4612G>A MANE Select	ENSP00000257430.4:p.Glu1538Lys
ENST00000257430.8:c.4612G>A	ENSP00000257430.4:p.Glu1538Lys
ENST00000508376.6:c.4612G>A	ENSP00000427089.2:p.Glu1538Lys
ENST00000508624.5:c.*3934G>A	ENSP00000424265.1:n.*3934G>A
ENST00000520401.1:c.230+11234G>A
NM_000038.5:c.4612G>A	NP_000029.2:p.Glu1538Lys
NM_001127510.2:c.4612G>A	NP_001120982.1:p.Glu1538Lys
NM_001127511.2:c.4558G>A	NP_001120983.2:p.Glu1520Lys
NM_001354895.1:c.4612G>A	NP_001341824.1:p.Glu1538Lys
NM_001354896.1:c.4666G>A	NP_001341825.1:p.Glu1556Lys
NM_001354897.1:c.4642G>A	NP_001341826.1:p.Glu1548Lys
NM_001354898.1:c.4537G>A	NP_001341827.1:p.Glu1513Lys
NM_001354899.1:c.4528G>A	NP_001341828.1:p.Glu1510Lys
NM_001354900.1:c.4489G>A	NP_001341829.1:p.Glu1497Lys
NM_001354901.1:c.4435G>A	NP_001341830.1:p.Glu1479Lys
NM_001354902.1:c.4339G>A	NP_001341831.1:p.Glu1447Lys
NM_001354903.1:c.4309G>A	NP_001341832.1:p.Glu1437Lys
NM_001354904.1:c.4234G>A	NP_001341833.1:p.Glu1412Lys
NM_001354905.1:c.4132G>A	NP_001341834.1:p.Glu1378Lys
NM_001354906.1:c.3763G>A	NP_001341835.1:p.Glu1255Lys
NM_000038.6:c.4612G>A MANE Select	NP_000029.2:p.Glu1538Lys
NM_001127510.3:c.4612G>A	NP_001120982.1:p.Glu1538Lys
NM_001127511.3:c.4558G>A	NP_001120983.2:p.Glu1520Lys
NM_001354895.2:c.4612G>A	NP_001341824.1:p.Glu1538Lys
NM_001354896.2:c.4666G>A	NP_001341825.1:p.Glu1556Lys
NM_001354897.2:c.4642G>A	NP_001341826.1:p.Glu1548Lys
NM_001354898.2:c.4537G>A	NP_001341827.1:p.Glu1513Lys
NM_001354899.2:c.4528G>A	NP_001341828.1:p.Glu1510Lys
NM_001354900.2:c.4489G>A	NP_001341829.1:p.Glu1497Lys
NM_001354901.2:c.4435G>A	NP_001341830.1:p.Glu1479Lys
NM_001354902.2:c.4339G>A	NP_001341831.1:p.Glu1447Lys
NM_001354903.2:c.4309G>A	NP_001341832.1:p.Glu1437Lys
NM_001354904.2:c.4234G>A	NP_001341833.1:p.Glu1412Lys
NM_001354905.2:c.4132G>A	NP_001341834.1:p.Glu1378Lys
NM_001354906.2:c.3763G>A	NP_001341835.1:p.Glu1255Lys