Canonical Allele Identifier: CA16036799

Gene: APC

Linked Data

• dbSNP Id: rs2149980048
• MyVariant Identifiers: chr5:g.112178393T>A (hg19) ; chr5:g.112842696T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112842696T>A , CM000667.2:g.112842696T>A	GRCh38
NC_000005.9:g.112178393T>A , CM000667.1:g.112178393T>A	GRCh37
NC_000005.8:g.112206292T>A	NCBI36
NG_008481.4:g.155176T>A , LRG_130:g.155176T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.7156T>A	ENSP00000473355.2:p.Ser2386Thr
ENST00000505350.2:c.*7108T>A	ENSP00000481752.1:n.*7108T>A
ENST00000507379.6:c.7048T>A	ENSP00000423224.2:p.Ser2350Thr
ENST00000509732.6:c.7102T>A	ENSP00000426541.2:p.Ser2368Thr
ENST00000512211.7:c.7102T>A	ENSP00000423828.3:p.Ser2368Thr
ENST00000257430.9:c.7102T>A MANE Select	ENSP00000257430.4:p.Ser2368Thr
ENST00000257430.8:c.7102T>A	ENSP00000257430.4:p.Ser2368Thr
ENST00000508376.6:c.7102T>A	ENSP00000427089.2:p.Ser2368Thr
ENST00000508624.5:c.*6424T>A	ENSP00000424265.1:n.*6424T>A
ENST00000520401.1:c.230+13724T>A
NM_000038.5:c.7102T>A	NP_000029.2:p.Ser2368Thr
NM_001127510.2:c.7102T>A	NP_001120982.1:p.Ser2368Thr
NM_001127511.2:c.7048T>A	NP_001120983.2:p.Ser2350Thr
NM_001354895.1:c.7102T>A	NP_001341824.1:p.Ser2368Thr
NM_001354896.1:c.7156T>A	NP_001341825.1:p.Ser2386Thr
NM_001354897.1:c.7132T>A	NP_001341826.1:p.Ser2378Thr
NM_001354898.1:c.7027T>A	NP_001341827.1:p.Ser2343Thr
NM_001354899.1:c.7018T>A	NP_001341828.1:p.Ser2340Thr
NM_001354900.1:c.6979T>A	NP_001341829.1:p.Ser2327Thr
NM_001354901.1:c.6925T>A	NP_001341830.1:p.Ser2309Thr
NM_001354902.1:c.6829T>A	NP_001341831.1:p.Ser2277Thr
NM_001354903.1:c.6799T>A	NP_001341832.1:p.Ser2267Thr
NM_001354904.1:c.6724T>A	NP_001341833.1:p.Ser2242Thr
NM_001354905.1:c.6622T>A	NP_001341834.1:p.Ser2208Thr
NM_001354906.1:c.6253T>A	NP_001341835.1:p.Ser2085Thr
NM_000038.6:c.7102T>A MANE Select	NP_000029.2:p.Ser2368Thr
NM_001127510.3:c.7102T>A	NP_001120982.1:p.Ser2368Thr
NM_001127511.3:c.7048T>A	NP_001120983.2:p.Ser2350Thr
NM_001354895.2:c.7102T>A	NP_001341824.1:p.Ser2368Thr
NM_001354896.2:c.7156T>A	NP_001341825.1:p.Ser2386Thr
NM_001354897.2:c.7132T>A	NP_001341826.1:p.Ser2378Thr
NM_001354898.2:c.7027T>A	NP_001341827.1:p.Ser2343Thr
NM_001354899.2:c.7018T>A	NP_001341828.1:p.Ser2340Thr
NM_001354900.2:c.6979T>A	NP_001341829.1:p.Ser2327Thr
NM_001354901.2:c.6925T>A	NP_001341830.1:p.Ser2309Thr
NM_001354902.2:c.6829T>A	NP_001341831.1:p.Ser2277Thr
NM_001354903.2:c.6799T>A	NP_001341832.1:p.Ser2267Thr
NM_001354904.2:c.6724T>A	NP_001341833.1:p.Ser2242Thr
NM_001354905.2:c.6622T>A	NP_001341834.1:p.Ser2208Thr
NM_001354906.2:c.6253T>A	NP_001341835.1:p.Ser2085Thr