Canonical Allele Identifier: CA16025253

Gene: APC

Linked Data

• ClinVar Variation Id: 2107141
• ClinVar RCV Id: RCV003744916
• MyVariant Identifiers: chr5:g.112170702A>G (hg19) ; chr5:g.112835005A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112835005A>G , CM000667.2:g.112835005A>G	GRCh38
NC_000005.9:g.112170702A>G , CM000667.1:g.112170702A>G	GRCh37
NC_000005.8:g.112198601A>G	NCBI36
NG_008481.4:g.147485A>G , LRG_130:g.147485A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000502371.3:c.1463A>G	ENSP00000484935.2:p.His488Arg
ENST00000504915.3:c.1852A>G	ENSP00000473355.2:p.Thr618Ala
ENST00000505350.2:c.*1804A>G	ENSP00000481752.1:n.*1804A>G
ENST00000507379.6:c.1744A>G	ENSP00000423224.2:p.Thr582Ala
ENST00000509732.6:c.1798A>G	ENSP00000426541.2:p.Thr600Ala
ENST00000512211.7:c.1798A>G	ENSP00000423828.3:p.Thr600Ala
ENST00000257430.9:c.1798A>G MANE Select	ENSP00000257430.4:p.Thr600Ala
ENST00000257430.8:c.1798A>G	ENSP00000257430.4:p.Thr600Ala
ENST00000502371.2:c.151A>G
ENST00000504915.2:c.487A>G	ENSP00000473355.1:p.Thr163Ala
ENST00000507379.5:c.1744A>G	ENSP00000423224.1:p.Thr582Ala
ENST00000508376.6:c.1798A>G	ENSP00000427089.2:p.Thr600Ala
ENST00000508624.5:c.*1120A>G	ENSP00000424265.1:n.*1120A>G
ENST00000512211.6:c.1798A>G	ENSP00000423828.2:p.Thr600Ala
ENST00000520401.1:c.230+6033A>G
NM_000038.5:c.1798A>G	NP_000029.2:p.Thr600Ala
NM_001127510.2:c.1798A>G	NP_001120982.1:p.Thr600Ala
NM_001127511.2:c.1744A>G	NP_001120983.2:p.Thr582Ala
NM_001354895.1:c.1798A>G	NP_001341824.1:p.Thr600Ala
NM_001354896.1:c.1852A>G	NP_001341825.1:p.Thr618Ala
NM_001354897.1:c.1828A>G	NP_001341826.1:p.Thr610Ala
NM_001354898.1:c.1723A>G	NP_001341827.1:p.Thr575Ala
NM_001354899.1:c.1714A>G	NP_001341828.1:p.Thr572Ala
NM_001354900.1:c.1675A>G	NP_001341829.1:p.Thr559Ala
NM_001354901.1:c.1621A>G	NP_001341830.1:p.Thr541Ala
NM_001354902.1:c.1525A>G	NP_001341831.1:p.Thr509Ala
NM_001354903.1:c.1495A>G	NP_001341832.1:p.Thr499Ala
NM_001354904.1:c.1420A>G	NP_001341833.1:p.Thr474Ala
NM_001354905.1:c.1318A>G	NP_001341834.1:p.Thr440Ala
NM_001354906.1:c.949A>G	NP_001341835.1:p.Thr317Ala
NM_000038.6:c.1798A>G MANE Select	NP_000029.2:p.Thr600Ala
NM_001127510.3:c.1798A>G	NP_001120982.1:p.Thr600Ala
NM_001127511.3:c.1744A>G	NP_001120983.2:p.Thr582Ala
NM_001354895.2:c.1798A>G	NP_001341824.1:p.Thr600Ala
NM_001354896.2:c.1852A>G	NP_001341825.1:p.Thr618Ala
NM_001354897.2:c.1828A>G	NP_001341826.1:p.Thr610Ala
NM_001354898.2:c.1723A>G	NP_001341827.1:p.Thr575Ala
NM_001354899.2:c.1714A>G	NP_001341828.1:p.Thr572Ala
NM_001354900.2:c.1675A>G	NP_001341829.1:p.Thr559Ala
NM_001354901.2:c.1621A>G	NP_001341830.1:p.Thr541Ala
NM_001354902.2:c.1525A>G	NP_001341831.1:p.Thr509Ala
NM_001354903.2:c.1495A>G	NP_001341832.1:p.Thr499Ala
NM_001354904.2:c.1420A>G	NP_001341833.1:p.Thr474Ala
NM_001354905.2:c.1318A>G	NP_001341834.1:p.Thr440Ala
NM_001354906.2:c.949A>G	NP_001341835.1:p.Thr317Ala