Canonical Allele Identifier: CA16038104

Gene: APC

Linked Data

• MyVariant Identifiers: chr5:g.112179014T>G (hg19) ; chr5:g.112843317T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112843317T>G , CM000667.2:g.112843317T>G	GRCh38
NC_000005.9:g.112179014T>G , CM000667.1:g.112179014T>G	GRCh37
NC_000005.8:g.112206913T>G	NCBI36
NG_008481.4:g.155797T>G , LRG_130:g.155797T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.7777T>G	ENSP00000473355.2:p.Ser2593Ala
ENST00000505350.2:c.*7729T>G	ENSP00000481752.1:n.*7729T>G
ENST00000507379.6:c.7669T>G	ENSP00000423224.2:p.Ser2557Ala
ENST00000509732.6:c.7723T>G	ENSP00000426541.2:p.Ser2575Ala
ENST00000512211.7:c.7723T>G	ENSP00000423828.3:p.Ser2575Ala
ENST00000257430.9:c.7723T>G MANE Select	ENSP00000257430.4:p.Ser2575Ala
ENST00000257430.8:c.7723T>G	ENSP00000257430.4:p.Ser2575Ala
ENST00000508376.6:c.7723T>G	ENSP00000427089.2:p.Ser2575Ala
ENST00000520401.1:c.231-13332T>G
NM_000038.5:c.7723T>G	NP_000029.2:p.Ser2575Ala
NM_001127510.2:c.7723T>G	NP_001120982.1:p.Ser2575Ala
NM_001127511.2:c.7669T>G	NP_001120983.2:p.Ser2557Ala
NM_001354895.1:c.7723T>G	NP_001341824.1:p.Ser2575Ala
NM_001354896.1:c.7777T>G	NP_001341825.1:p.Ser2593Ala
NM_001354897.1:c.7753T>G	NP_001341826.1:p.Ser2585Ala
NM_001354898.1:c.7648T>G	NP_001341827.1:p.Ser2550Ala
NM_001354899.1:c.7639T>G	NP_001341828.1:p.Ser2547Ala
NM_001354900.1:c.7600T>G	NP_001341829.1:p.Ser2534Ala
NM_001354901.1:c.7546T>G	NP_001341830.1:p.Ser2516Ala
NM_001354902.1:c.7450T>G	NP_001341831.1:p.Ser2484Ala
NM_001354903.1:c.7420T>G	NP_001341832.1:p.Ser2474Ala
NM_001354904.1:c.7345T>G	NP_001341833.1:p.Ser2449Ala
NM_001354905.1:c.7243T>G	NP_001341834.1:p.Ser2415Ala
NM_001354906.1:c.6874T>G	NP_001341835.1:p.Ser2292Ala
NM_000038.6:c.7723T>G MANE Select	NP_000029.2:p.Ser2575Ala
NM_001127510.3:c.7723T>G	NP_001120982.1:p.Ser2575Ala
NM_001127511.3:c.7669T>G	NP_001120983.2:p.Ser2557Ala
NM_001354895.2:c.7723T>G	NP_001341824.1:p.Ser2575Ala
NM_001354896.2:c.7777T>G	NP_001341825.1:p.Ser2593Ala
NM_001354897.2:c.7753T>G	NP_001341826.1:p.Ser2585Ala
NM_001354898.2:c.7648T>G	NP_001341827.1:p.Ser2550Ala
NM_001354899.2:c.7639T>G	NP_001341828.1:p.Ser2547Ala
NM_001354900.2:c.7600T>G	NP_001341829.1:p.Ser2534Ala
NM_001354901.2:c.7546T>G	NP_001341830.1:p.Ser2516Ala
NM_001354902.2:c.7450T>G	NP_001341831.1:p.Ser2484Ala
NM_001354903.2:c.7420T>G	NP_001341832.1:p.Ser2474Ala
NM_001354904.2:c.7345T>G	NP_001341833.1:p.Ser2449Ala
NM_001354905.2:c.7243T>G	NP_001341834.1:p.Ser2415Ala
NM_001354906.2:c.6874T>G	NP_001341835.1:p.Ser2292Ala