Canonical Allele Identifier: CA16025456

Gene: APC

Linked Data

• ClinVar Variation Id: 643193
• ClinVar RCV Id: RCV002534611
• dbSNP Id: rs1580604755
• MyVariant Identifiers: chr5:g.112170796T>C (hg19) ; chr5:g.112835099T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112835099T>C , CM000667.2:g.112835099T>C	GRCh38
NC_000005.9:g.112170796T>C , CM000667.1:g.112170796T>C	GRCh37
NC_000005.8:g.112198695T>C	NCBI36
NG_008481.4:g.147579T>C , LRG_130:g.147579T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000502371.3:c.1557T>C	ENSP00000484935.2:n.1557T>C
ENST00000504915.3:c.1946T>C	ENSP00000473355.2:p.Ile649Thr
ENST00000505350.2:c.*1898T>C	ENSP00000481752.1:n.*1898T>C
ENST00000507379.6:c.1838T>C	ENSP00000423224.2:p.Ile613Thr
ENST00000509732.6:c.1892T>C	ENSP00000426541.2:p.Ile631Thr
ENST00000512211.7:c.1892T>C	ENSP00000423828.3:p.Ile631Thr
ENST00000257430.9:c.1892T>C MANE Select	ENSP00000257430.4:p.Ile631Thr
ENST00000257430.8:c.1892T>C	ENSP00000257430.4:p.Ile631Thr
ENST00000502371.2:c.245T>C
ENST00000504915.2:c.581T>C	ENSP00000473355.1:p.Ile194Thr
ENST00000507379.5:c.1838T>C	ENSP00000423224.1:p.Ile613Thr
ENST00000508376.6:c.1892T>C	ENSP00000427089.2:p.Ile631Thr
ENST00000508624.5:c.*1214T>C	ENSP00000424265.1:n.*1214T>C
ENST00000512211.6:c.1892T>C	ENSP00000423828.2:p.Ile631Thr
ENST00000520401.1:c.230+6127T>C
NM_000038.5:c.1892T>C	NP_000029.2:p.Ile631Thr
NM_001127510.2:c.1892T>C	NP_001120982.1:p.Ile631Thr
NM_001127511.2:c.1838T>C	NP_001120983.2:p.Ile613Thr
NM_001354895.1:c.1892T>C	NP_001341824.1:p.Ile631Thr
NM_001354896.1:c.1946T>C	NP_001341825.1:p.Ile649Thr
NM_001354897.1:c.1922T>C	NP_001341826.1:p.Ile641Thr
NM_001354898.1:c.1817T>C	NP_001341827.1:p.Ile606Thr
NM_001354899.1:c.1808T>C	NP_001341828.1:p.Ile603Thr
NM_001354900.1:c.1769T>C	NP_001341829.1:p.Ile590Thr
NM_001354901.1:c.1715T>C	NP_001341830.1:p.Ile572Thr
NM_001354902.1:c.1619T>C	NP_001341831.1:p.Ile540Thr
NM_001354903.1:c.1589T>C	NP_001341832.1:p.Ile530Thr
NM_001354904.1:c.1514T>C	NP_001341833.1:p.Ile505Thr
NM_001354905.1:c.1412T>C	NP_001341834.1:p.Ile471Thr
NM_001354906.1:c.1043T>C	NP_001341835.1:p.Ile348Thr
NM_000038.6:c.1892T>C MANE Select	NP_000029.2:p.Ile631Thr
NM_001127510.3:c.1892T>C	NP_001120982.1:p.Ile631Thr
NM_001127511.3:c.1838T>C	NP_001120983.2:p.Ile613Thr
NM_001354895.2:c.1892T>C	NP_001341824.1:p.Ile631Thr
NM_001354896.2:c.1946T>C	NP_001341825.1:p.Ile649Thr
NM_001354897.2:c.1922T>C	NP_001341826.1:p.Ile641Thr
NM_001354898.2:c.1817T>C	NP_001341827.1:p.Ile606Thr
NM_001354899.2:c.1808T>C	NP_001341828.1:p.Ile603Thr
NM_001354900.2:c.1769T>C	NP_001341829.1:p.Ile590Thr
NM_001354901.2:c.1715T>C	NP_001341830.1:p.Ile572Thr
NM_001354902.2:c.1619T>C	NP_001341831.1:p.Ile540Thr
NM_001354903.2:c.1589T>C	NP_001341832.1:p.Ile530Thr
NM_001354904.2:c.1514T>C	NP_001341833.1:p.Ile505Thr
NM_001354905.2:c.1412T>C	NP_001341834.1:p.Ile471Thr
NM_001354906.2:c.1043T>C	NP_001341835.1:p.Ile348Thr