Canonical Allele Identifier: CA16024910

Gene: APC

Linked Data

• ClinVar Variation Id: 2015500
• ClinVar RCV Id: RCV003742954
• dbSNP Id: rs2149817078
• MyVariant Identifiers: chr5:g.112164574A>T (hg19) ; chr5:g.112828877A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112828877A>T , CM000667.2:g.112828877A>T	GRCh38
NC_000005.9:g.112164574A>T , CM000667.1:g.112164574A>T	GRCh37
NC_000005.8:g.112192473A>T	NCBI36
NG_008481.4:g.141357A>T , LRG_130:g.141357A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502371.3:c.1409-6074A>T	ENSP00000484935.2:n.1409-6074A>T
ENST00000504915.3:c.1702A>T	ENSP00000473355.2:p.Asn568Tyr
ENST00000505084.2:n.1704A>T
ENST00000505350.2:c.*1654A>T	ENSP00000481752.1:n.*1654A>T
ENST00000507379.6:c.1594A>T	ENSP00000423224.2:p.Asn532Tyr
ENST00000509732.6:c.1648A>T	ENSP00000426541.2:p.Asn550Tyr
ENST00000512211.7:c.1648A>T	ENSP00000423828.3:p.Asn550Tyr
ENST00000257430.9:c.1648A>T MANE Select	ENSP00000257430.4:p.Asn550Tyr
ENST00000257430.8:c.1648A>T	ENSP00000257430.4:p.Asn550Tyr
ENST00000502371.2:c.97-6074A>T
ENST00000504915.2:c.337A>T	ENSP00000473355.1:p.Asn113Tyr
ENST00000505084.1:n.135A>T
ENST00000507379.5:c.1594A>T	ENSP00000423224.1:p.Asn532Tyr
ENST00000508376.6:c.1648A>T	ENSP00000427089.2:p.Asn550Tyr
ENST00000508624.5:c.*970A>T	ENSP00000424265.1:n.*970A>T
ENST00000512211.6:c.1648A>T	ENSP00000423828.2:p.Asn550Tyr
ENST00000520401.1:c.135A>T
NM_000038.5:c.1648A>T	NP_000029.2:p.Asn550Tyr
NM_001127510.2:c.1648A>T	NP_001120982.1:p.Asn550Tyr
NM_001127511.2:c.1594A>T	NP_001120983.2:p.Asn532Tyr
NM_001354895.1:c.1648A>T	NP_001341824.1:p.Asn550Tyr
NM_001354896.1:c.1702A>T	NP_001341825.1:p.Asn568Tyr
NM_001354897.1:c.1678A>T	NP_001341826.1:p.Asn560Tyr
NM_001354898.1:c.1573A>T	NP_001341827.1:p.Asn525Tyr
NM_001354899.1:c.1564A>T	NP_001341828.1:p.Asn522Tyr
NM_001354900.1:c.1525A>T	NP_001341829.1:p.Asn509Tyr
NM_001354901.1:c.1471A>T	NP_001341830.1:p.Asn491Tyr
NM_001354902.1:c.1375A>T	NP_001341831.1:p.Asn459Tyr
NM_001354903.1:c.1345A>T	NP_001341832.1:p.Asn449Tyr
NM_001354904.1:c.1270A>T	NP_001341833.1:p.Asn424Tyr
NM_001354905.1:c.1168A>T	NP_001341834.1:p.Asn390Tyr
NM_001354906.1:c.799A>T	NP_001341835.1:p.Asn267Tyr
NM_000038.6:c.1648A>T MANE Select	NP_000029.2:p.Asn550Tyr
NM_001127510.3:c.1648A>T	NP_001120982.1:p.Asn550Tyr
NM_001127511.3:c.1594A>T	NP_001120983.2:p.Asn532Tyr
NM_001354895.2:c.1648A>T	NP_001341824.1:p.Asn550Tyr
NM_001354896.2:c.1702A>T	NP_001341825.1:p.Asn568Tyr
NM_001354897.2:c.1678A>T	NP_001341826.1:p.Asn560Tyr
NM_001354898.2:c.1573A>T	NP_001341827.1:p.Asn525Tyr
NM_001354899.2:c.1564A>T	NP_001341828.1:p.Asn522Tyr
NM_001354900.2:c.1525A>T	NP_001341829.1:p.Asn509Tyr
NM_001354901.2:c.1471A>T	NP_001341830.1:p.Asn491Tyr
NM_001354902.2:c.1375A>T	NP_001341831.1:p.Asn459Tyr
NM_001354903.2:c.1345A>T	NP_001341832.1:p.Asn449Tyr
NM_001354904.2:c.1270A>T	NP_001341833.1:p.Asn424Tyr
NM_001354905.2:c.1168A>T	NP_001341834.1:p.Asn390Tyr
NM_001354906.2:c.799A>T	NP_001341835.1:p.Asn267Tyr