Canonical Allele Identifier: CA16038758

Gene: APC

Linked Data

• ClinVar Variation Id: 584680
• ClinVar RCV Id: RCV000708975
• dbSNP Id: rs1561619997
• MyVariant Identifiers: chr5:g.112179314C>T (hg19) ; chr5:g.112843617C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112843617C>T , CM000667.2:g.112843617C>T	GRCh38
NC_000005.9:g.112179314C>T , CM000667.1:g.112179314C>T	GRCh37
NC_000005.8:g.112207213C>T	NCBI36
NG_008481.4:g.156097C>T , LRG_130:g.156097C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.8077C>T	ENSP00000473355.2:p.Pro2693Ser
ENST00000505350.2:c.*8029C>T	ENSP00000481752.1:n.*8029C>T
ENST00000507379.6:c.7969C>T	ENSP00000423224.2:p.Pro2657Ser
ENST00000509732.6:c.8023C>T	ENSP00000426541.2:p.Pro2675Ser
ENST00000512211.7:c.8023C>T	ENSP00000423828.3:p.Pro2675Ser
ENST00000257430.9:c.8023C>T MANE Select	ENSP00000257430.4:p.Pro2675Ser
ENST00000257430.8:c.8023C>T	ENSP00000257430.4:p.Pro2675Ser
ENST00000508376.6:c.8023C>T	ENSP00000427089.2:p.Pro2675Ser
ENST00000520401.1:c.231-13032C>T
NM_000038.5:c.8023C>T	NP_000029.2:p.Pro2675Ser
NM_001127510.2:c.8023C>T	NP_001120982.1:p.Pro2675Ser
NM_001127511.2:c.7969C>T	NP_001120983.2:p.Pro2657Ser
NM_001354895.1:c.8023C>T	NP_001341824.1:p.Pro2675Ser
NM_001354896.1:c.8077C>T	NP_001341825.1:p.Pro2693Ser
NM_001354897.1:c.8053C>T	NP_001341826.1:p.Pro2685Ser
NM_001354898.1:c.7948C>T	NP_001341827.1:p.Pro2650Ser
NM_001354899.1:c.7939C>T	NP_001341828.1:p.Pro2647Ser
NM_001354900.1:c.7900C>T	NP_001341829.1:p.Pro2634Ser
NM_001354901.1:c.7846C>T	NP_001341830.1:p.Pro2616Ser
NM_001354902.1:c.7750C>T	NP_001341831.1:p.Pro2584Ser
NM_001354903.1:c.7720C>T	NP_001341832.1:p.Pro2574Ser
NM_001354904.1:c.7645C>T	NP_001341833.1:p.Pro2549Ser
NM_001354905.1:c.7543C>T	NP_001341834.1:p.Pro2515Ser
NM_001354906.1:c.7174C>T	NP_001341835.1:p.Pro2392Ser
NM_000038.6:c.8023C>T MANE Select	NP_000029.2:p.Pro2675Ser
NM_001127510.3:c.8023C>T	NP_001120982.1:p.Pro2675Ser
NM_001127511.3:c.7969C>T	NP_001120983.2:p.Pro2657Ser
NM_001354895.2:c.8023C>T	NP_001341824.1:p.Pro2675Ser
NM_001354896.2:c.8077C>T	NP_001341825.1:p.Pro2693Ser
NM_001354897.2:c.8053C>T	NP_001341826.1:p.Pro2685Ser
NM_001354898.2:c.7948C>T	NP_001341827.1:p.Pro2650Ser
NM_001354899.2:c.7939C>T	NP_001341828.1:p.Pro2647Ser
NM_001354900.2:c.7900C>T	NP_001341829.1:p.Pro2634Ser
NM_001354901.2:c.7846C>T	NP_001341830.1:p.Pro2616Ser
NM_001354902.2:c.7750C>T	NP_001341831.1:p.Pro2584Ser
NM_001354903.2:c.7720C>T	NP_001341832.1:p.Pro2574Ser
NM_001354904.2:c.7645C>T	NP_001341833.1:p.Pro2549Ser
NM_001354905.2:c.7543C>T	NP_001341834.1:p.Pro2515Ser
NM_001354906.2:c.7174C>T	NP_001341835.1:p.Pro2392Ser