Canonical Allele Identifier: CA007554

Gene: APC

Linked Data

• ClinVar Variation Id: 82631
• ClinVar RCV Id: RCV000073620 ; RCV002426625 ; RCV003534325
• dbSNP Id: rs79512956
• COSMIC: COSM3607572
• MyVariant Identifiers: chr5:g.112173801C>G (hg19) ; chr5:g.112838104C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112838104C>G , CM000667.2:g.112838104C>G	GRCh38
NC_000005.9:g.112173801C>G , CM000667.1:g.112173801C>G	GRCh37
NC_000005.8:g.112201700C>G	NCBI36
NG_008481.4:g.150584C>G , LRG_130:g.150584C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502371.3:c.2175C>G	ENSP00000484935.2:n.2175C>G
ENST00000504915.3:c.2564C>G	ENSP00000473355.2:p.Ser855Ter
ENST00000505350.2:c.*2516C>G	ENSP00000481752.1:n.*2516C>G
ENST00000507379.6:c.2456C>G	ENSP00000423224.2:p.Ser819Ter
ENST00000509732.6:c.2510C>G	ENSP00000426541.2:p.Ser837Ter
ENST00000512211.7:c.2510C>G	ENSP00000423828.3:p.Ser837Ter
ENST00000257430.9:c.2510C>G MANE Select	ENSP00000257430.4:p.Ser837Ter
ENST00000257430.8:c.2510C>G	ENSP00000257430.4:p.Ser837Ter
ENST00000502371.2:c.863C>G
ENST00000507379.5:c.2456C>G	ENSP00000423224.1:p.Ser819Ter
ENST00000508376.6:c.2510C>G	ENSP00000427089.2:p.Ser837Ter
ENST00000508624.5:c.*1832C>G	ENSP00000424265.1:n.*1832C>G
ENST00000512211.6:c.2510C>G	ENSP00000423828.2:p.Ser837Ter
ENST00000520401.1:c.230+9132C>G
NM_000038.5:c.2510C>G	NP_000029.2:p.Ser837Ter
NM_001127510.2:c.2510C>G	NP_001120982.1:p.Ser837Ter
NM_001127511.2:c.2456C>G	NP_001120983.2:p.Ser819Ter
NM_001354895.1:c.2510C>G	NP_001341824.1:p.Ser837Ter
NM_001354896.1:c.2564C>G	NP_001341825.1:p.Ser855Ter
NM_001354897.1:c.2540C>G	NP_001341826.1:p.Ser847Ter
NM_001354898.1:c.2435C>G	NP_001341827.1:p.Ser812Ter
NM_001354899.1:c.2426C>G	NP_001341828.1:p.Ser809Ter
NM_001354900.1:c.2387C>G	NP_001341829.1:p.Ser796Ter
NM_001354901.1:c.2333C>G	NP_001341830.1:p.Ser778Ter
NM_001354902.1:c.2237C>G	NP_001341831.1:p.Ser746Ter
NM_001354903.1:c.2207C>G	NP_001341832.1:p.Ser736Ter
NM_001354904.1:c.2132C>G	NP_001341833.1:p.Ser711Ter
NM_001354905.1:c.2030C>G	NP_001341834.1:p.Ser677Ter
NM_001354906.1:c.1661C>G	NP_001341835.1:p.Ser554Ter
NM_000038.6:c.2510C>G MANE Select	NP_000029.2:p.Ser837Ter
NM_001127510.3:c.2510C>G	NP_001120982.1:p.Ser837Ter
NM_001127511.3:c.2456C>G	NP_001120983.2:p.Ser819Ter
NM_001354895.2:c.2510C>G	NP_001341824.1:p.Ser837Ter
NM_001354896.2:c.2564C>G	NP_001341825.1:p.Ser855Ter
NM_001354897.2:c.2540C>G	NP_001341826.1:p.Ser847Ter
NM_001354898.2:c.2435C>G	NP_001341827.1:p.Ser812Ter
NM_001354899.2:c.2426C>G	NP_001341828.1:p.Ser809Ter
NM_001354900.2:c.2387C>G	NP_001341829.1:p.Ser796Ter
NM_001354901.2:c.2333C>G	NP_001341830.1:p.Ser778Ter
NM_001354902.2:c.2237C>G	NP_001341831.1:p.Ser746Ter
NM_001354903.2:c.2207C>G	NP_001341832.1:p.Ser736Ter
NM_001354904.2:c.2132C>G	NP_001341833.1:p.Ser711Ter
NM_001354905.2:c.2030C>G	NP_001341834.1:p.Ser677Ter
NM_001354906.2:c.1661C>G	NP_001341835.1:p.Ser554Ter