Canonical Allele Identifier: CA16038702

Gene: APC

Linked Data

• ClinVar Variation Id: 1761528
• ClinVar RCV Id: RCV002419101 ; RCV003744014 ; RCV004005761
• dbSNP Id: rs2149997642
• gnomAD v4: 5-112843591-T-A
• MyVariant Identifiers: chr5:g.112179288T>A (hg19) ; chr5:g.112843591T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112843591T>A , CM000667.2:g.112843591T>A	GRCh38
NC_000005.9:g.112179288T>A , CM000667.1:g.112179288T>A	GRCh37
NC_000005.8:g.112207187T>A	NCBI36
NG_008481.4:g.156071T>A , LRG_130:g.156071T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.8051T>A	ENSP00000473355.2:p.Ile2684Asn
ENST00000505350.2:c.*8003T>A	ENSP00000481752.1:n.*8003T>A
ENST00000507379.6:c.7943T>A	ENSP00000423224.2:p.Ile2648Asn
ENST00000509732.6:c.7997T>A	ENSP00000426541.2:p.Ile2666Asn
ENST00000512211.7:c.7997T>A	ENSP00000423828.3:p.Ile2666Asn
ENST00000257430.9:c.7997T>A MANE Select	ENSP00000257430.4:p.Ile2666Asn
ENST00000257430.8:c.7997T>A	ENSP00000257430.4:p.Ile2666Asn
ENST00000508376.6:c.7997T>A	ENSP00000427089.2:p.Ile2666Asn
ENST00000520401.1:c.231-13058T>A
NM_000038.5:c.7997T>A	NP_000029.2:p.Ile2666Asn
NM_001127510.2:c.7997T>A	NP_001120982.1:p.Ile2666Asn
NM_001127511.2:c.7943T>A	NP_001120983.2:p.Ile2648Asn
NM_001354895.1:c.7997T>A	NP_001341824.1:p.Ile2666Asn
NM_001354896.1:c.8051T>A	NP_001341825.1:p.Ile2684Asn
NM_001354897.1:c.8027T>A	NP_001341826.1:p.Ile2676Asn
NM_001354898.1:c.7922T>A	NP_001341827.1:p.Ile2641Asn
NM_001354899.1:c.7913T>A	NP_001341828.1:p.Ile2638Asn
NM_001354900.1:c.7874T>A	NP_001341829.1:p.Ile2625Asn
NM_001354901.1:c.7820T>A	NP_001341830.1:p.Ile2607Asn
NM_001354902.1:c.7724T>A	NP_001341831.1:p.Ile2575Asn
NM_001354903.1:c.7694T>A	NP_001341832.1:p.Ile2565Asn
NM_001354904.1:c.7619T>A	NP_001341833.1:p.Ile2540Asn
NM_001354905.1:c.7517T>A	NP_001341834.1:p.Ile2506Asn
NM_001354906.1:c.7148T>A	NP_001341835.1:p.Ile2383Asn
NM_000038.6:c.7997T>A MANE Select	NP_000029.2:p.Ile2666Asn
NM_001127510.3:c.7997T>A	NP_001120982.1:p.Ile2666Asn
NM_001127511.3:c.7943T>A	NP_001120983.2:p.Ile2648Asn
NM_001354895.2:c.7997T>A	NP_001341824.1:p.Ile2666Asn
NM_001354896.2:c.8051T>A	NP_001341825.1:p.Ile2684Asn
NM_001354897.2:c.8027T>A	NP_001341826.1:p.Ile2676Asn
NM_001354898.2:c.7922T>A	NP_001341827.1:p.Ile2641Asn
NM_001354899.2:c.7913T>A	NP_001341828.1:p.Ile2638Asn
NM_001354900.2:c.7874T>A	NP_001341829.1:p.Ile2625Asn
NM_001354901.2:c.7820T>A	NP_001341830.1:p.Ile2607Asn
NM_001354902.2:c.7724T>A	NP_001341831.1:p.Ile2575Asn
NM_001354903.2:c.7694T>A	NP_001341832.1:p.Ile2565Asn
NM_001354904.2:c.7619T>A	NP_001341833.1:p.Ile2540Asn
NM_001354905.2:c.7517T>A	NP_001341834.1:p.Ile2506Asn
NM_001354906.2:c.7148T>A	NP_001341835.1:p.Ile2383Asn