Canonical Allele Identifier: CA16037596

Gene: APC

Linked Data

• ClinVar Variation Id: 1759075
• ClinVar RCV Id: RCV002391481
• dbSNP Id: rs2149987883
• MyVariant Identifiers: chr5:g.112178768C>A (hg19) ; chr5:g.112843071C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112843071C>A , CM000667.2:g.112843071C>A	GRCh38
NC_000005.9:g.112178768C>A , CM000667.1:g.112178768C>A	GRCh37
NC_000005.8:g.112206667C>A	NCBI36
NG_008481.4:g.155551C>A , LRG_130:g.155551C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.7531C>A	ENSP00000473355.2:p.Leu2511Ile
ENST00000505350.2:c.*7483C>A	ENSP00000481752.1:n.*7483C>A
ENST00000507379.6:c.7423C>A	ENSP00000423224.2:p.Leu2475Ile
ENST00000509732.6:c.7477C>A	ENSP00000426541.2:p.Leu2493Ile
ENST00000512211.7:c.7477C>A	ENSP00000423828.3:p.Leu2493Ile
ENST00000257430.9:c.7477C>A MANE Select	ENSP00000257430.4:p.Leu2493Ile
ENST00000257430.8:c.7477C>A	ENSP00000257430.4:p.Leu2493Ile
ENST00000508376.6:c.7477C>A	ENSP00000427089.2:p.Leu2493Ile
ENST00000520401.1:c.231-13578C>A
NM_000038.5:c.7477C>A	NP_000029.2:p.Leu2493Ile
NM_001127510.2:c.7477C>A	NP_001120982.1:p.Leu2493Ile
NM_001127511.2:c.7423C>A	NP_001120983.2:p.Leu2475Ile
NM_001354895.1:c.7477C>A	NP_001341824.1:p.Leu2493Ile
NM_001354896.1:c.7531C>A	NP_001341825.1:p.Leu2511Ile
NM_001354897.1:c.7507C>A	NP_001341826.1:p.Leu2503Ile
NM_001354898.1:c.7402C>A	NP_001341827.1:p.Leu2468Ile
NM_001354899.1:c.7393C>A	NP_001341828.1:p.Leu2465Ile
NM_001354900.1:c.7354C>A	NP_001341829.1:p.Leu2452Ile
NM_001354901.1:c.7300C>A	NP_001341830.1:p.Leu2434Ile
NM_001354902.1:c.7204C>A	NP_001341831.1:p.Leu2402Ile
NM_001354903.1:c.7174C>A	NP_001341832.1:p.Leu2392Ile
NM_001354904.1:c.7099C>A	NP_001341833.1:p.Leu2367Ile
NM_001354905.1:c.6997C>A	NP_001341834.1:p.Leu2333Ile
NM_001354906.1:c.6628C>A	NP_001341835.1:p.Leu2210Ile
NM_000038.6:c.7477C>A MANE Select	NP_000029.2:p.Leu2493Ile
NM_001127510.3:c.7477C>A	NP_001120982.1:p.Leu2493Ile
NM_001127511.3:c.7423C>A	NP_001120983.2:p.Leu2475Ile
NM_001354895.2:c.7477C>A	NP_001341824.1:p.Leu2493Ile
NM_001354896.2:c.7531C>A	NP_001341825.1:p.Leu2511Ile
NM_001354897.2:c.7507C>A	NP_001341826.1:p.Leu2503Ile
NM_001354898.2:c.7402C>A	NP_001341827.1:p.Leu2468Ile
NM_001354899.2:c.7393C>A	NP_001341828.1:p.Leu2465Ile
NM_001354900.2:c.7354C>A	NP_001341829.1:p.Leu2452Ile
NM_001354901.2:c.7300C>A	NP_001341830.1:p.Leu2434Ile
NM_001354902.2:c.7204C>A	NP_001341831.1:p.Leu2402Ile
NM_001354903.2:c.7174C>A	NP_001341832.1:p.Leu2392Ile
NM_001354904.2:c.7099C>A	NP_001341833.1:p.Leu2367Ile
NM_001354905.2:c.6997C>A	NP_001341834.1:p.Leu2333Ile
NM_001354906.2:c.6628C>A	NP_001341835.1:p.Leu2210Ile