Canonical Allele Identifier: CA16025271

Gene: APC

Linked Data

• ClinVar Variation Id: 924397
• ClinVar RCV Id: RCV001185687
• dbSNP Id: rs1580603584
• MyVariant Identifiers: chr5:g.112170709A>T (hg19) ; chr5:g.112835012A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112835012A>T , CM000667.2:g.112835012A>T	GRCh38
NC_000005.9:g.112170709A>T , CM000667.1:g.112170709A>T	GRCh37
NC_000005.8:g.112198608A>T	NCBI36
NG_008481.4:g.147492A>T , LRG_130:g.147492A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000502371.3:c.1470A>T	ENSP00000484935.2:n.1470A>T
ENST00000504915.3:c.1859A>T	ENSP00000473355.2:p.Asn620Ile
ENST00000505350.2:c.*1811A>T	ENSP00000481752.1:n.*1811A>T
ENST00000507379.6:c.1751A>T	ENSP00000423224.2:p.Asn584Ile
ENST00000509732.6:c.1805A>T	ENSP00000426541.2:p.Asn602Ile
ENST00000512211.7:c.1805A>T	ENSP00000423828.3:p.Asn602Ile
ENST00000257430.9:c.1805A>T MANE Select	ENSP00000257430.4:p.Asn602Ile
ENST00000257430.8:c.1805A>T	ENSP00000257430.4:p.Asn602Ile
ENST00000502371.2:c.158A>T
ENST00000504915.2:c.494A>T	ENSP00000473355.1:p.Asn165Ile
ENST00000507379.5:c.1751A>T	ENSP00000423224.1:p.Asn584Ile
ENST00000508376.6:c.1805A>T	ENSP00000427089.2:p.Asn602Ile
ENST00000508624.5:c.*1127A>T	ENSP00000424265.1:n.*1127A>T
ENST00000512211.6:c.1805A>T	ENSP00000423828.2:p.Asn602Ile
ENST00000520401.1:c.230+6040A>T
NM_000038.5:c.1805A>T	NP_000029.2:p.Asn602Ile
NM_001127510.2:c.1805A>T	NP_001120982.1:p.Asn602Ile
NM_001127511.2:c.1751A>T	NP_001120983.2:p.Asn584Ile
NM_001354895.1:c.1805A>T	NP_001341824.1:p.Asn602Ile
NM_001354896.1:c.1859A>T	NP_001341825.1:p.Asn620Ile
NM_001354897.1:c.1835A>T	NP_001341826.1:p.Asn612Ile
NM_001354898.1:c.1730A>T	NP_001341827.1:p.Asn577Ile
NM_001354899.1:c.1721A>T	NP_001341828.1:p.Asn574Ile
NM_001354900.1:c.1682A>T	NP_001341829.1:p.Asn561Ile
NM_001354901.1:c.1628A>T	NP_001341830.1:p.Asn543Ile
NM_001354902.1:c.1532A>T	NP_001341831.1:p.Asn511Ile
NM_001354903.1:c.1502A>T	NP_001341832.1:p.Asn501Ile
NM_001354904.1:c.1427A>T	NP_001341833.1:p.Asn476Ile
NM_001354905.1:c.1325A>T	NP_001341834.1:p.Asn442Ile
NM_001354906.1:c.956A>T	NP_001341835.1:p.Asn319Ile
NM_000038.6:c.1805A>T MANE Select	NP_000029.2:p.Asn602Ile
NM_001127510.3:c.1805A>T	NP_001120982.1:p.Asn602Ile
NM_001127511.3:c.1751A>T	NP_001120983.2:p.Asn584Ile
NM_001354895.2:c.1805A>T	NP_001341824.1:p.Asn602Ile
NM_001354896.2:c.1859A>T	NP_001341825.1:p.Asn620Ile
NM_001354897.2:c.1835A>T	NP_001341826.1:p.Asn612Ile
NM_001354898.2:c.1730A>T	NP_001341827.1:p.Asn577Ile
NM_001354899.2:c.1721A>T	NP_001341828.1:p.Asn574Ile
NM_001354900.2:c.1682A>T	NP_001341829.1:p.Asn561Ile
NM_001354901.2:c.1628A>T	NP_001341830.1:p.Asn543Ile
NM_001354902.2:c.1532A>T	NP_001341831.1:p.Asn511Ile
NM_001354903.2:c.1502A>T	NP_001341832.1:p.Asn501Ile
NM_001354904.2:c.1427A>T	NP_001341833.1:p.Asn476Ile
NM_001354905.2:c.1325A>T	NP_001341834.1:p.Asn442Ile
NM_001354906.2:c.956A>T	NP_001341835.1:p.Asn319Ile