Canonical Allele Identifier: CA16039202

Gene: APC

Linked Data

• ClinVar Variation Id: 2827950
• ClinVar RCV Id: RCV003744279
• MyVariant Identifiers: chr5:g.112179523T>A (hg19) ; chr5:g.112843826T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112843826T>A , CM000667.2:g.112843826T>A	GRCh38
NC_000005.9:g.112179523T>A , CM000667.1:g.112179523T>A	GRCh37
NC_000005.8:g.112207422T>A	NCBI36
NG_008481.4:g.156306T>A , LRG_130:g.156306T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.8286T>A	ENSP00000473355.2:p.Asn2762Lys
ENST00000505350.2:c.*8238T>A	ENSP00000481752.1:n.*8238T>A
ENST00000507379.6:c.8178T>A	ENSP00000423224.2:p.Asn2726Lys
ENST00000509732.6:c.8232T>A	ENSP00000426541.2:p.Asn2744Lys
ENST00000512211.7:c.8232T>A	ENSP00000423828.3:p.Asn2744Lys
ENST00000257430.9:c.8232T>A MANE Select	ENSP00000257430.4:p.Asn2744Lys
ENST00000257430.8:c.8232T>A	ENSP00000257430.4:p.Asn2744Lys
ENST00000508376.6:c.8232T>A	ENSP00000427089.2:p.Asn2744Lys
ENST00000520401.1:c.231-12823T>A
NM_000038.5:c.8232T>A	NP_000029.2:p.Asn2744Lys
NM_001127510.2:c.8232T>A	NP_001120982.1:p.Asn2744Lys
NM_001127511.2:c.8178T>A	NP_001120983.2:p.Asn2726Lys
NM_001354895.1:c.8232T>A	NP_001341824.1:p.Asn2744Lys
NM_001354896.1:c.8286T>A	NP_001341825.1:p.Asn2762Lys
NM_001354897.1:c.8262T>A	NP_001341826.1:p.Asn2754Lys
NM_001354898.1:c.8157T>A	NP_001341827.1:p.Asn2719Lys
NM_001354899.1:c.8148T>A	NP_001341828.1:p.Asn2716Lys
NM_001354900.1:c.8109T>A	NP_001341829.1:p.Asn2703Lys
NM_001354901.1:c.8055T>A	NP_001341830.1:p.Asn2685Lys
NM_001354902.1:c.7959T>A	NP_001341831.1:p.Asn2653Lys
NM_001354903.1:c.7929T>A	NP_001341832.1:p.Asn2643Lys
NM_001354904.1:c.7854T>A	NP_001341833.1:p.Asn2618Lys
NM_001354905.1:c.7752T>A	NP_001341834.1:p.Asn2584Lys
NM_001354906.1:c.7383T>A	NP_001341835.1:p.Asn2461Lys
NM_000038.6:c.8232T>A MANE Select	NP_000029.2:p.Asn2744Lys
NM_001127510.3:c.8232T>A	NP_001120982.1:p.Asn2744Lys
NM_001127511.3:c.8178T>A	NP_001120983.2:p.Asn2726Lys
NM_001354895.2:c.8232T>A	NP_001341824.1:p.Asn2744Lys
NM_001354896.2:c.8286T>A	NP_001341825.1:p.Asn2762Lys
NM_001354897.2:c.8262T>A	NP_001341826.1:p.Asn2754Lys
NM_001354898.2:c.8157T>A	NP_001341827.1:p.Asn2719Lys
NM_001354899.2:c.8148T>A	NP_001341828.1:p.Asn2716Lys
NM_001354900.2:c.8109T>A	NP_001341829.1:p.Asn2703Lys
NM_001354901.2:c.8055T>A	NP_001341830.1:p.Asn2685Lys
NM_001354902.2:c.7959T>A	NP_001341831.1:p.Asn2653Lys
NM_001354903.2:c.7929T>A	NP_001341832.1:p.Asn2643Lys
NM_001354904.2:c.7854T>A	NP_001341833.1:p.Asn2618Lys
NM_001354905.2:c.7752T>A	NP_001341834.1:p.Asn2584Lys
NM_001354906.2:c.7383T>A	NP_001341835.1:p.Asn2461Lys