Canonical Allele Identifier: CA16032343

Gene: APC

Linked Data

• ClinVar Variation Id: 2775119
• ClinVar RCV Id: RCV003585133
• dbSNP Id: rs2149930367
• MyVariant Identifiers: chr5:g.112176326G>A (hg19) ; chr5:g.112840629G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112840629G>A , CM000667.2:g.112840629G>A	GRCh38
NC_000005.9:g.112176326G>A , CM000667.1:g.112176326G>A	GRCh37
NC_000005.8:g.112204225G>A	NCBI36
NG_008481.4:g.153109G>A , LRG_130:g.153109G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.5089G>A	ENSP00000473355.2:p.Ala1697Thr
ENST00000505350.2:c.*5041G>A	ENSP00000481752.1:n.*5041G>A
ENST00000507379.6:c.4981G>A	ENSP00000423224.2:p.Ala1661Thr
ENST00000509732.6:c.5035G>A	ENSP00000426541.2:p.Ala1679Thr
ENST00000512211.7:c.5035G>A	ENSP00000423828.3:p.Ala1679Thr
ENST00000257430.9:c.5035G>A MANE Select	ENSP00000257430.4:p.Ala1679Thr
ENST00000257430.8:c.5035G>A	ENSP00000257430.4:p.Ala1679Thr
ENST00000508376.6:c.5035G>A	ENSP00000427089.2:p.Ala1679Thr
ENST00000508624.5:c.*4357G>A	ENSP00000424265.1:n.*4357G>A
ENST00000520401.1:c.230+11657G>A
NM_000038.5:c.5035G>A	NP_000029.2:p.Ala1679Thr
NM_001127510.2:c.5035G>A	NP_001120982.1:p.Ala1679Thr
NM_001127511.2:c.4981G>A	NP_001120983.2:p.Ala1661Thr
NM_001354895.1:c.5035G>A	NP_001341824.1:p.Ala1679Thr
NM_001354896.1:c.5089G>A	NP_001341825.1:p.Ala1697Thr
NM_001354897.1:c.5065G>A	NP_001341826.1:p.Ala1689Thr
NM_001354898.1:c.4960G>A	NP_001341827.1:p.Ala1654Thr
NM_001354899.1:c.4951G>A	NP_001341828.1:p.Ala1651Thr
NM_001354900.1:c.4912G>A	NP_001341829.1:p.Ala1638Thr
NM_001354901.1:c.4858G>A	NP_001341830.1:p.Ala1620Thr
NM_001354902.1:c.4762G>A	NP_001341831.1:p.Ala1588Thr
NM_001354903.1:c.4732G>A	NP_001341832.1:p.Ala1578Thr
NM_001354904.1:c.4657G>A	NP_001341833.1:p.Ala1553Thr
NM_001354905.1:c.4555G>A	NP_001341834.1:p.Ala1519Thr
NM_001354906.1:c.4186G>A	NP_001341835.1:p.Ala1396Thr
NM_000038.6:c.5035G>A MANE Select	NP_000029.2:p.Ala1679Thr
NM_001127510.3:c.5035G>A	NP_001120982.1:p.Ala1679Thr
NM_001127511.3:c.4981G>A	NP_001120983.2:p.Ala1661Thr
NM_001354895.2:c.5035G>A	NP_001341824.1:p.Ala1679Thr
NM_001354896.2:c.5089G>A	NP_001341825.1:p.Ala1697Thr
NM_001354897.2:c.5065G>A	NP_001341826.1:p.Ala1689Thr
NM_001354898.2:c.4960G>A	NP_001341827.1:p.Ala1654Thr
NM_001354899.2:c.4951G>A	NP_001341828.1:p.Ala1651Thr
NM_001354900.2:c.4912G>A	NP_001341829.1:p.Ala1638Thr
NM_001354901.2:c.4858G>A	NP_001341830.1:p.Ala1620Thr
NM_001354902.2:c.4762G>A	NP_001341831.1:p.Ala1588Thr
NM_001354903.2:c.4732G>A	NP_001341832.1:p.Ala1578Thr
NM_001354904.2:c.4657G>A	NP_001341833.1:p.Ala1553Thr
NM_001354905.2:c.4555G>A	NP_001341834.1:p.Ala1519Thr
NM_001354906.2:c.4186G>A	NP_001341835.1:p.Ala1396Thr