Canonical Allele Identifier: CA16037921

Gene: APC

Linked Data

• ClinVar Variation Id: 579380
• ClinVar RCV Id: RCV003534706
• dbSNP Id: rs1476294154
• MyVariant Identifiers: chr5:g.112178930T>A (hg19) ; chr5:g.112843233T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112843233T>A , CM000667.2:g.112843233T>A	GRCh38
NC_000005.9:g.112178930T>A , CM000667.1:g.112178930T>A	GRCh37
NC_000005.8:g.112206829T>A	NCBI36
NG_008481.4:g.155713T>A , LRG_130:g.155713T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.7693T>A	ENSP00000473355.2:p.Trp2565Arg
ENST00000505350.2:c.*7645T>A	ENSP00000481752.1:n.*7645T>A
ENST00000507379.6:c.7585T>A	ENSP00000423224.2:p.Trp2529Arg
ENST00000509732.6:c.7639T>A	ENSP00000426541.2:p.Trp2547Arg
ENST00000512211.7:c.7639T>A	ENSP00000423828.3:p.Trp2547Arg
ENST00000257430.9:c.7639T>A MANE Select	ENSP00000257430.4:p.Trp2547Arg
ENST00000257430.8:c.7639T>A	ENSP00000257430.4:p.Trp2547Arg
ENST00000508376.6:c.7639T>A	ENSP00000427089.2:p.Trp2547Arg
ENST00000520401.1:c.231-13416T>A
NM_000038.5:c.7639T>A	NP_000029.2:p.Trp2547Arg
NM_001127510.2:c.7639T>A	NP_001120982.1:p.Trp2547Arg
NM_001127511.2:c.7585T>A	NP_001120983.2:p.Trp2529Arg
NM_001354895.1:c.7639T>A	NP_001341824.1:p.Trp2547Arg
NM_001354896.1:c.7693T>A	NP_001341825.1:p.Trp2565Arg
NM_001354897.1:c.7669T>A	NP_001341826.1:p.Trp2557Arg
NM_001354898.1:c.7564T>A	NP_001341827.1:p.Trp2522Arg
NM_001354899.1:c.7555T>A	NP_001341828.1:p.Trp2519Arg
NM_001354900.1:c.7516T>A	NP_001341829.1:p.Trp2506Arg
NM_001354901.1:c.7462T>A	NP_001341830.1:p.Trp2488Arg
NM_001354902.1:c.7366T>A	NP_001341831.1:p.Trp2456Arg
NM_001354903.1:c.7336T>A	NP_001341832.1:p.Trp2446Arg
NM_001354904.1:c.7261T>A	NP_001341833.1:p.Trp2421Arg
NM_001354905.1:c.7159T>A	NP_001341834.1:p.Trp2387Arg
NM_001354906.1:c.6790T>A	NP_001341835.1:p.Trp2264Arg
NM_000038.6:c.7639T>A MANE Select	NP_000029.2:p.Trp2547Arg
NM_001127510.3:c.7639T>A	NP_001120982.1:p.Trp2547Arg
NM_001127511.3:c.7585T>A	NP_001120983.2:p.Trp2529Arg
NM_001354895.2:c.7639T>A	NP_001341824.1:p.Trp2547Arg
NM_001354896.2:c.7693T>A	NP_001341825.1:p.Trp2565Arg
NM_001354897.2:c.7669T>A	NP_001341826.1:p.Trp2557Arg
NM_001354898.2:c.7564T>A	NP_001341827.1:p.Trp2522Arg
NM_001354899.2:c.7555T>A	NP_001341828.1:p.Trp2519Arg
NM_001354900.2:c.7516T>A	NP_001341829.1:p.Trp2506Arg
NM_001354901.2:c.7462T>A	NP_001341830.1:p.Trp2488Arg
NM_001354902.2:c.7366T>A	NP_001341831.1:p.Trp2456Arg
NM_001354903.2:c.7336T>A	NP_001341832.1:p.Trp2446Arg
NM_001354904.2:c.7261T>A	NP_001341833.1:p.Trp2421Arg
NM_001354905.2:c.7159T>A	NP_001341834.1:p.Trp2387Arg
NM_001354906.2:c.6790T>A	NP_001341835.1:p.Trp2264Arg