Canonical Allele Identifier: CA16037712

Gene: APC

Linked Data

• MyVariant Identifiers: chr5:g.112178827T>A (hg19) ; chr5:g.112843130T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112843130T>A , CM000667.2:g.112843130T>A	GRCh38
NC_000005.9:g.112178827T>A , CM000667.1:g.112178827T>A	GRCh37
NC_000005.8:g.112206726T>A	NCBI36
NG_008481.4:g.155610T>A , LRG_130:g.155610T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000504915.3:c.7590T>A	ENSP00000473355.2:p.Ser2530Arg
ENST00000505350.2:c.*7542T>A	ENSP00000481752.1:n.*7542T>A
ENST00000507379.6:c.7482T>A	ENSP00000423224.2:p.Ser2494Arg
ENST00000509732.6:c.7536T>A	ENSP00000426541.2:p.Ser2512Arg
ENST00000512211.7:c.7536T>A	ENSP00000423828.3:p.Ser2512Arg
ENST00000257430.9:c.7536T>A MANE Select	ENSP00000257430.4:p.Ser2512Arg
ENST00000257430.8:c.7536T>A	ENSP00000257430.4:p.Ser2512Arg
ENST00000508376.6:c.7536T>A	ENSP00000427089.2:p.Ser2512Arg
ENST00000520401.1:c.231-13519T>A
NM_000038.5:c.7536T>A	NP_000029.2:p.Ser2512Arg
NM_001127510.2:c.7536T>A	NP_001120982.1:p.Ser2512Arg
NM_001127511.2:c.7482T>A	NP_001120983.2:p.Ser2494Arg
NM_001354895.1:c.7536T>A	NP_001341824.1:p.Ser2512Arg
NM_001354896.1:c.7590T>A	NP_001341825.1:p.Ser2530Arg
NM_001354897.1:c.7566T>A	NP_001341826.1:p.Ser2522Arg
NM_001354898.1:c.7461T>A	NP_001341827.1:p.Ser2487Arg
NM_001354899.1:c.7452T>A	NP_001341828.1:p.Ser2484Arg
NM_001354900.1:c.7413T>A	NP_001341829.1:p.Ser2471Arg
NM_001354901.1:c.7359T>A	NP_001341830.1:p.Ser2453Arg
NM_001354902.1:c.7263T>A	NP_001341831.1:p.Ser2421Arg
NM_001354903.1:c.7233T>A	NP_001341832.1:p.Ser2411Arg
NM_001354904.1:c.7158T>A	NP_001341833.1:p.Ser2386Arg
NM_001354905.1:c.7056T>A	NP_001341834.1:p.Ser2352Arg
NM_001354906.1:c.6687T>A	NP_001341835.1:p.Ser2229Arg
NM_000038.6:c.7536T>A MANE Select	NP_000029.2:p.Ser2512Arg
NM_001127510.3:c.7536T>A	NP_001120982.1:p.Ser2512Arg
NM_001127511.3:c.7482T>A	NP_001120983.2:p.Ser2494Arg
NM_001354895.2:c.7536T>A	NP_001341824.1:p.Ser2512Arg
NM_001354896.2:c.7590T>A	NP_001341825.1:p.Ser2530Arg
NM_001354897.2:c.7566T>A	NP_001341826.1:p.Ser2522Arg
NM_001354898.2:c.7461T>A	NP_001341827.1:p.Ser2487Arg
NM_001354899.2:c.7452T>A	NP_001341828.1:p.Ser2484Arg
NM_001354900.2:c.7413T>A	NP_001341829.1:p.Ser2471Arg
NM_001354901.2:c.7359T>A	NP_001341830.1:p.Ser2453Arg
NM_001354902.2:c.7263T>A	NP_001341831.1:p.Ser2421Arg
NM_001354903.2:c.7233T>A	NP_001341832.1:p.Ser2411Arg
NM_001354904.2:c.7158T>A	NP_001341833.1:p.Ser2386Arg
NM_001354905.2:c.7056T>A	NP_001341834.1:p.Ser2352Arg
NM_001354906.2:c.6687T>A	NP_001341835.1:p.Ser2229Arg