Canonical Allele Identifier: CA16036564

Gene: APC

Linked Data

• ClinVar Variation Id: 628104
• ClinVar RCV Id: RCV000772409
• dbSNP Id: rs1561611800
• MyVariant Identifiers: chr5:g.112178279T>A (hg19) ; chr5:g.112842582T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112842582T>A , CM000667.2:g.112842582T>A	GRCh38
NC_000005.9:g.112178279T>A , CM000667.1:g.112178279T>A	GRCh37
NC_000005.8:g.112206178T>A	NCBI36
NG_008481.4:g.155062T>A , LRG_130:g.155062T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.7042T>A	ENSP00000473355.2:p.Ser2348Thr
ENST00000505350.2:c.*6994T>A	ENSP00000481752.1:n.*6994T>A
ENST00000507379.6:c.6934T>A	ENSP00000423224.2:p.Ser2312Thr
ENST00000509732.6:c.6988T>A	ENSP00000426541.2:p.Ser2330Thr
ENST00000512211.7:c.6988T>A	ENSP00000423828.3:p.Ser2330Thr
ENST00000257430.9:c.6988T>A MANE Select	ENSP00000257430.4:p.Ser2330Thr
ENST00000257430.8:c.6988T>A	ENSP00000257430.4:p.Ser2330Thr
ENST00000508376.6:c.6988T>A	ENSP00000427089.2:p.Ser2330Thr
ENST00000508624.5:c.*6310T>A	ENSP00000424265.1:n.*6310T>A
ENST00000520401.1:c.230+13610T>A
NM_000038.5:c.6988T>A	NP_000029.2:p.Ser2330Thr
NM_001127510.2:c.6988T>A	NP_001120982.1:p.Ser2330Thr
NM_001127511.2:c.6934T>A	NP_001120983.2:p.Ser2312Thr
NM_001354895.1:c.6988T>A	NP_001341824.1:p.Ser2330Thr
NM_001354896.1:c.7042T>A	NP_001341825.1:p.Ser2348Thr
NM_001354897.1:c.7018T>A	NP_001341826.1:p.Ser2340Thr
NM_001354898.1:c.6913T>A	NP_001341827.1:p.Ser2305Thr
NM_001354899.1:c.6904T>A	NP_001341828.1:p.Ser2302Thr
NM_001354900.1:c.6865T>A	NP_001341829.1:p.Ser2289Thr
NM_001354901.1:c.6811T>A	NP_001341830.1:p.Ser2271Thr
NM_001354902.1:c.6715T>A	NP_001341831.1:p.Ser2239Thr
NM_001354903.1:c.6685T>A	NP_001341832.1:p.Ser2229Thr
NM_001354904.1:c.6610T>A	NP_001341833.1:p.Ser2204Thr
NM_001354905.1:c.6508T>A	NP_001341834.1:p.Ser2170Thr
NM_001354906.1:c.6139T>A	NP_001341835.1:p.Ser2047Thr
NM_000038.6:c.6988T>A MANE Select	NP_000029.2:p.Ser2330Thr
NM_001127510.3:c.6988T>A	NP_001120982.1:p.Ser2330Thr
NM_001127511.3:c.6934T>A	NP_001120983.2:p.Ser2312Thr
NM_001354895.2:c.6988T>A	NP_001341824.1:p.Ser2330Thr
NM_001354896.2:c.7042T>A	NP_001341825.1:p.Ser2348Thr
NM_001354897.2:c.7018T>A	NP_001341826.1:p.Ser2340Thr
NM_001354898.2:c.6913T>A	NP_001341827.1:p.Ser2305Thr
NM_001354899.2:c.6904T>A	NP_001341828.1:p.Ser2302Thr
NM_001354900.2:c.6865T>A	NP_001341829.1:p.Ser2289Thr
NM_001354901.2:c.6811T>A	NP_001341830.1:p.Ser2271Thr
NM_001354902.2:c.6715T>A	NP_001341831.1:p.Ser2239Thr
NM_001354903.2:c.6685T>A	NP_001341832.1:p.Ser2229Thr
NM_001354904.2:c.6610T>A	NP_001341833.1:p.Ser2204Thr
NM_001354905.2:c.6508T>A	NP_001341834.1:p.Ser2170Thr
NM_001354906.2:c.6139T>A	NP_001341835.1:p.Ser2047Thr