Canonical Allele Identifier: CA16037165

Gene: APC

Linked Data

• ClinVar Variation Id: 482410
• ClinVar RCV Id: RCV000570138 ; RCV003335503
• dbSNP Id: rs1554088206
• MyVariant Identifiers: chr5:g.112178562C>G (hg19) ; chr5:g.112842865C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112842865C>G , CM000667.2:g.112842865C>G	GRCh38
NC_000005.9:g.112178562C>G , CM000667.1:g.112178562C>G	GRCh37
NC_000005.8:g.112206461C>G	NCBI36
NG_008481.4:g.155345C>G , LRG_130:g.155345C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.7325C>G	ENSP00000473355.2:p.Ser2442Ter
ENST00000505350.2:c.*7277C>G	ENSP00000481752.1:n.*7277C>G
ENST00000507379.6:c.7217C>G	ENSP00000423224.2:p.Ser2406Ter
ENST00000509732.6:c.7271C>G	ENSP00000426541.2:p.Ser2424Ter
ENST00000512211.7:c.7271C>G	ENSP00000423828.3:p.Ser2424Ter
ENST00000257430.9:c.7271C>G MANE Select	ENSP00000257430.4:p.Ser2424Ter
ENST00000257430.8:c.7271C>G	ENSP00000257430.4:p.Ser2424Ter
ENST00000508376.6:c.7271C>G	ENSP00000427089.2:p.Ser2424Ter
ENST00000520401.1:c.231-13784C>G
NM_000038.5:c.7271C>G	NP_000029.2:p.Ser2424Ter
NM_001127510.2:c.7271C>G	NP_001120982.1:p.Ser2424Ter
NM_001127511.2:c.7217C>G	NP_001120983.2:p.Ser2406Ter
NM_001354895.1:c.7271C>G	NP_001341824.1:p.Ser2424Ter
NM_001354896.1:c.7325C>G	NP_001341825.1:p.Ser2442Ter
NM_001354897.1:c.7301C>G	NP_001341826.1:p.Ser2434Ter
NM_001354898.1:c.7196C>G	NP_001341827.1:p.Ser2399Ter
NM_001354899.1:c.7187C>G	NP_001341828.1:p.Ser2396Ter
NM_001354900.1:c.7148C>G	NP_001341829.1:p.Ser2383Ter
NM_001354901.1:c.7094C>G	NP_001341830.1:p.Ser2365Ter
NM_001354902.1:c.6998C>G	NP_001341831.1:p.Ser2333Ter
NM_001354903.1:c.6968C>G	NP_001341832.1:p.Ser2323Ter
NM_001354904.1:c.6893C>G	NP_001341833.1:p.Ser2298Ter
NM_001354905.1:c.6791C>G	NP_001341834.1:p.Ser2264Ter
NM_001354906.1:c.6422C>G	NP_001341835.1:p.Ser2141Ter
NM_000038.6:c.7271C>G MANE Select	NP_000029.2:p.Ser2424Ter
NM_001127510.3:c.7271C>G	NP_001120982.1:p.Ser2424Ter
NM_001127511.3:c.7217C>G	NP_001120983.2:p.Ser2406Ter
NM_001354895.2:c.7271C>G	NP_001341824.1:p.Ser2424Ter
NM_001354896.2:c.7325C>G	NP_001341825.1:p.Ser2442Ter
NM_001354897.2:c.7301C>G	NP_001341826.1:p.Ser2434Ter
NM_001354898.2:c.7196C>G	NP_001341827.1:p.Ser2399Ter
NM_001354899.2:c.7187C>G	NP_001341828.1:p.Ser2396Ter
NM_001354900.2:c.7148C>G	NP_001341829.1:p.Ser2383Ter
NM_001354901.2:c.7094C>G	NP_001341830.1:p.Ser2365Ter
NM_001354902.2:c.6998C>G	NP_001341831.1:p.Ser2333Ter
NM_001354903.2:c.6968C>G	NP_001341832.1:p.Ser2323Ter
NM_001354904.2:c.6893C>G	NP_001341833.1:p.Ser2298Ter
NM_001354905.2:c.6791C>G	NP_001341834.1:p.Ser2264Ter
NM_001354906.2:c.6422C>G	NP_001341835.1:p.Ser2141Ter