Canonical Allele Identifier: CA16031493

Gene: APC

Linked Data

• ClinVar Variation Id: 2452745
• ClinVar RCV Id: RCV003177519
• dbSNP Id: rs1554086032
• MyVariant Identifiers: chr5:g.112175929T>A (hg19) ; chr5:g.112840232T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112840232T>A , CM000667.2:g.112840232T>A	GRCh38
NC_000005.9:g.112175929T>A , CM000667.1:g.112175929T>A	GRCh37
NC_000005.8:g.112203828T>A	NCBI36
NG_008481.4:g.152712T>A , LRG_130:g.152712T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.4692T>A	ENSP00000473355.2:p.Asn1564Lys
ENST00000505350.2:c.*4644T>A	ENSP00000481752.1:n.*4644T>A
ENST00000507379.6:c.4584T>A	ENSP00000423224.2:p.Asn1528Lys
ENST00000509732.6:c.4638T>A	ENSP00000426541.2:p.Asn1546Lys
ENST00000512211.7:c.4638T>A	ENSP00000423828.3:p.Asn1546Lys
ENST00000257430.9:c.4638T>A MANE Select	ENSP00000257430.4:p.Asn1546Lys
ENST00000257430.8:c.4638T>A	ENSP00000257430.4:p.Asn1546Lys
ENST00000508376.6:c.4638T>A	ENSP00000427089.2:p.Asn1546Lys
ENST00000508624.5:c.*3960T>A	ENSP00000424265.1:n.*3960T>A
ENST00000520401.1:c.230+11260T>A
NM_000038.5:c.4638T>A	NP_000029.2:p.Asn1546Lys
NM_001127510.2:c.4638T>A	NP_001120982.1:p.Asn1546Lys
NM_001127511.2:c.4584T>A	NP_001120983.2:p.Asn1528Lys
NM_001354895.1:c.4638T>A	NP_001341824.1:p.Asn1546Lys
NM_001354896.1:c.4692T>A	NP_001341825.1:p.Asn1564Lys
NM_001354897.1:c.4668T>A	NP_001341826.1:p.Asn1556Lys
NM_001354898.1:c.4563T>A	NP_001341827.1:p.Asn1521Lys
NM_001354899.1:c.4554T>A	NP_001341828.1:p.Asn1518Lys
NM_001354900.1:c.4515T>A	NP_001341829.1:p.Asn1505Lys
NM_001354901.1:c.4461T>A	NP_001341830.1:p.Asn1487Lys
NM_001354902.1:c.4365T>A	NP_001341831.1:p.Asn1455Lys
NM_001354903.1:c.4335T>A	NP_001341832.1:p.Asn1445Lys
NM_001354904.1:c.4260T>A	NP_001341833.1:p.Asn1420Lys
NM_001354905.1:c.4158T>A	NP_001341834.1:p.Asn1386Lys
NM_001354906.1:c.3789T>A	NP_001341835.1:p.Asn1263Lys
NM_000038.6:c.4638T>A MANE Select	NP_000029.2:p.Asn1546Lys
NM_001127510.3:c.4638T>A	NP_001120982.1:p.Asn1546Lys
NM_001127511.3:c.4584T>A	NP_001120983.2:p.Asn1528Lys
NM_001354895.2:c.4638T>A	NP_001341824.1:p.Asn1546Lys
NM_001354896.2:c.4692T>A	NP_001341825.1:p.Asn1564Lys
NM_001354897.2:c.4668T>A	NP_001341826.1:p.Asn1556Lys
NM_001354898.2:c.4563T>A	NP_001341827.1:p.Asn1521Lys
NM_001354899.2:c.4554T>A	NP_001341828.1:p.Asn1518Lys
NM_001354900.2:c.4515T>A	NP_001341829.1:p.Asn1505Lys
NM_001354901.2:c.4461T>A	NP_001341830.1:p.Asn1487Lys
NM_001354902.2:c.4365T>A	NP_001341831.1:p.Asn1455Lys
NM_001354903.2:c.4335T>A	NP_001341832.1:p.Asn1445Lys
NM_001354904.2:c.4260T>A	NP_001341833.1:p.Asn1420Lys
NM_001354905.2:c.4158T>A	NP_001341834.1:p.Asn1386Lys
NM_001354906.2:c.3789T>A	NP_001341835.1:p.Asn1263Lys