Canonical Allele Identifier: CA16038432

Gene: APC

Linked Data

• ClinVar Variation Id: 489499
• ClinVar RCV Id: RCV000579961 ; RCV003153750 ; RCV003537237 ; RCV004001235
• dbSNP Id: rs550242704
• gnomAD v4: 5-112843464-A-G
• COSMIC: COSM1059652
• MyVariant Identifiers: chr5:g.112179161A>G (hg19) ; chr5:g.112843464A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112843464A>G , CM000667.2:g.112843464A>G	GRCh38
NC_000005.9:g.112179161A>G , CM000667.1:g.112179161A>G	GRCh37
NC_000005.8:g.112207060A>G	NCBI36
NG_008481.4:g.155944A>G , LRG_130:g.155944A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.7924A>G	ENSP00000473355.2:p.Asn2642Asp
ENST00000505350.2:c.*7876A>G	ENSP00000481752.1:n.*7876A>G
ENST00000507379.6:c.7816A>G	ENSP00000423224.2:p.Asn2606Asp
ENST00000509732.6:c.7870A>G	ENSP00000426541.2:p.Asn2624Asp
ENST00000512211.7:c.7870A>G	ENSP00000423828.3:p.Asn2624Asp
ENST00000257430.9:c.7870A>G MANE Select	ENSP00000257430.4:p.Asn2624Asp
ENST00000257430.8:c.7870A>G	ENSP00000257430.4:p.Asn2624Asp
ENST00000508376.6:c.7870A>G	ENSP00000427089.2:p.Asn2624Asp
ENST00000520401.1:c.231-13185A>G
NM_000038.5:c.7870A>G	NP_000029.2:p.Asn2624Asp
NM_001127510.2:c.7870A>G	NP_001120982.1:p.Asn2624Asp
NM_001127511.2:c.7816A>G	NP_001120983.2:p.Asn2606Asp
NM_001354895.1:c.7870A>G	NP_001341824.1:p.Asn2624Asp
NM_001354896.1:c.7924A>G	NP_001341825.1:p.Asn2642Asp
NM_001354897.1:c.7900A>G	NP_001341826.1:p.Asn2634Asp
NM_001354898.1:c.7795A>G	NP_001341827.1:p.Asn2599Asp
NM_001354899.1:c.7786A>G	NP_001341828.1:p.Asn2596Asp
NM_001354900.1:c.7747A>G	NP_001341829.1:p.Asn2583Asp
NM_001354901.1:c.7693A>G	NP_001341830.1:p.Asn2565Asp
NM_001354902.1:c.7597A>G	NP_001341831.1:p.Asn2533Asp
NM_001354903.1:c.7567A>G	NP_001341832.1:p.Asn2523Asp
NM_001354904.1:c.7492A>G	NP_001341833.1:p.Asn2498Asp
NM_001354905.1:c.7390A>G	NP_001341834.1:p.Asn2464Asp
NM_001354906.1:c.7021A>G	NP_001341835.1:p.Asn2341Asp
NM_000038.6:c.7870A>G MANE Select	NP_000029.2:p.Asn2624Asp
NM_001127510.3:c.7870A>G	NP_001120982.1:p.Asn2624Asp
NM_001127511.3:c.7816A>G	NP_001120983.2:p.Asn2606Asp
NM_001354895.2:c.7870A>G	NP_001341824.1:p.Asn2624Asp
NM_001354896.2:c.7924A>G	NP_001341825.1:p.Asn2642Asp
NM_001354897.2:c.7900A>G	NP_001341826.1:p.Asn2634Asp
NM_001354898.2:c.7795A>G	NP_001341827.1:p.Asn2599Asp
NM_001354899.2:c.7786A>G	NP_001341828.1:p.Asn2596Asp
NM_001354900.2:c.7747A>G	NP_001341829.1:p.Asn2583Asp
NM_001354901.2:c.7693A>G	NP_001341830.1:p.Asn2565Asp
NM_001354902.2:c.7597A>G	NP_001341831.1:p.Asn2533Asp
NM_001354903.2:c.7567A>G	NP_001341832.1:p.Asn2523Asp
NM_001354904.2:c.7492A>G	NP_001341833.1:p.Asn2498Asp
NM_001354905.2:c.7390A>G	NP_001341834.1:p.Asn2464Asp
NM_001354906.2:c.7021A>G	NP_001341835.1:p.Asn2341Asp