Canonical Allele Identifier: CA16037837

Gene: APC

Linked Data

• ClinVar Variation Id: 1321396
• ClinVar RCV Id: RCV001779490 ; RCV002388666 ; RCV003538818
• dbSNP Id: rs1766520094
• MyVariant Identifiers: chr5:g.112178889C>G (hg19) ; chr5:g.112843192C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112843192C>G , CM000667.2:g.112843192C>G	GRCh38
NC_000005.9:g.112178889C>G , CM000667.1:g.112178889C>G	GRCh37
NC_000005.8:g.112206788C>G	NCBI36
NG_008481.4:g.155672C>G , LRG_130:g.155672C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.7652C>G	ENSP00000473355.2:p.Ser2551Cys
ENST00000505350.2:c.*7604C>G	ENSP00000481752.1:n.*7604C>G
ENST00000507379.6:c.7544C>G	ENSP00000423224.2:p.Ser2515Cys
ENST00000509732.6:c.7598C>G	ENSP00000426541.2:p.Ser2533Cys
ENST00000512211.7:c.7598C>G	ENSP00000423828.3:p.Ser2533Cys
ENST00000257430.9:c.7598C>G MANE Select	ENSP00000257430.4:p.Ser2533Cys
ENST00000257430.8:c.7598C>G	ENSP00000257430.4:p.Ser2533Cys
ENST00000508376.6:c.7598C>G	ENSP00000427089.2:p.Ser2533Cys
ENST00000520401.1:c.231-13457C>G
NM_000038.5:c.7598C>G	NP_000029.2:p.Ser2533Cys
NM_001127510.2:c.7598C>G	NP_001120982.1:p.Ser2533Cys
NM_001127511.2:c.7544C>G	NP_001120983.2:p.Ser2515Cys
NM_001354895.1:c.7598C>G	NP_001341824.1:p.Ser2533Cys
NM_001354896.1:c.7652C>G	NP_001341825.1:p.Ser2551Cys
NM_001354897.1:c.7628C>G	NP_001341826.1:p.Ser2543Cys
NM_001354898.1:c.7523C>G	NP_001341827.1:p.Ser2508Cys
NM_001354899.1:c.7514C>G	NP_001341828.1:p.Ser2505Cys
NM_001354900.1:c.7475C>G	NP_001341829.1:p.Ser2492Cys
NM_001354901.1:c.7421C>G	NP_001341830.1:p.Ser2474Cys
NM_001354902.1:c.7325C>G	NP_001341831.1:p.Ser2442Cys
NM_001354903.1:c.7295C>G	NP_001341832.1:p.Ser2432Cys
NM_001354904.1:c.7220C>G	NP_001341833.1:p.Ser2407Cys
NM_001354905.1:c.7118C>G	NP_001341834.1:p.Ser2373Cys
NM_001354906.1:c.6749C>G	NP_001341835.1:p.Ser2250Cys
NM_000038.6:c.7598C>G MANE Select	NP_000029.2:p.Ser2533Cys
NM_001127510.3:c.7598C>G	NP_001120982.1:p.Ser2533Cys
NM_001127511.3:c.7544C>G	NP_001120983.2:p.Ser2515Cys
NM_001354895.2:c.7598C>G	NP_001341824.1:p.Ser2533Cys
NM_001354896.2:c.7652C>G	NP_001341825.1:p.Ser2551Cys
NM_001354897.2:c.7628C>G	NP_001341826.1:p.Ser2543Cys
NM_001354898.2:c.7523C>G	NP_001341827.1:p.Ser2508Cys
NM_001354899.2:c.7514C>G	NP_001341828.1:p.Ser2505Cys
NM_001354900.2:c.7475C>G	NP_001341829.1:p.Ser2492Cys
NM_001354901.2:c.7421C>G	NP_001341830.1:p.Ser2474Cys
NM_001354902.2:c.7325C>G	NP_001341831.1:p.Ser2442Cys
NM_001354903.2:c.7295C>G	NP_001341832.1:p.Ser2432Cys
NM_001354904.2:c.7220C>G	NP_001341833.1:p.Ser2407Cys
NM_001354905.2:c.7118C>G	NP_001341834.1:p.Ser2373Cys
NM_001354906.2:c.6749C>G	NP_001341835.1:p.Ser2250Cys