Canonical Allele Identifier: CA16037625

Gene: APC

Linked Data

• dbSNP Id: rs1766493069
• MyVariant Identifiers: chr5:g.112178783T>A (hg19) ; chr5:g.112843086T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112843086T>A , CM000667.2:g.112843086T>A	GRCh38
NC_000005.9:g.112178783T>A , CM000667.1:g.112178783T>A	GRCh37
NC_000005.8:g.112206682T>A	NCBI36
NG_008481.4:g.155566T>A , LRG_130:g.155566T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.7546T>A	ENSP00000473355.2:p.Ser2516Thr
ENST00000505350.2:c.*7498T>A	ENSP00000481752.1:n.*7498T>A
ENST00000507379.6:c.7438T>A	ENSP00000423224.2:p.Ser2480Thr
ENST00000509732.6:c.7492T>A	ENSP00000426541.2:p.Ser2498Thr
ENST00000512211.7:c.7492T>A	ENSP00000423828.3:p.Ser2498Thr
ENST00000257430.9:c.7492T>A MANE Select	ENSP00000257430.4:p.Ser2498Thr
ENST00000257430.8:c.7492T>A	ENSP00000257430.4:p.Ser2498Thr
ENST00000508376.6:c.7492T>A	ENSP00000427089.2:p.Ser2498Thr
ENST00000520401.1:c.231-13563T>A
NM_000038.5:c.7492T>A	NP_000029.2:p.Ser2498Thr
NM_001127510.2:c.7492T>A	NP_001120982.1:p.Ser2498Thr
NM_001127511.2:c.7438T>A	NP_001120983.2:p.Ser2480Thr
NM_001354895.1:c.7492T>A	NP_001341824.1:p.Ser2498Thr
NM_001354896.1:c.7546T>A	NP_001341825.1:p.Ser2516Thr
NM_001354897.1:c.7522T>A	NP_001341826.1:p.Ser2508Thr
NM_001354898.1:c.7417T>A	NP_001341827.1:p.Ser2473Thr
NM_001354899.1:c.7408T>A	NP_001341828.1:p.Ser2470Thr
NM_001354900.1:c.7369T>A	NP_001341829.1:p.Ser2457Thr
NM_001354901.1:c.7315T>A	NP_001341830.1:p.Ser2439Thr
NM_001354902.1:c.7219T>A	NP_001341831.1:p.Ser2407Thr
NM_001354903.1:c.7189T>A	NP_001341832.1:p.Ser2397Thr
NM_001354904.1:c.7114T>A	NP_001341833.1:p.Ser2372Thr
NM_001354905.1:c.7012T>A	NP_001341834.1:p.Ser2338Thr
NM_001354906.1:c.6643T>A	NP_001341835.1:p.Ser2215Thr
NM_000038.6:c.7492T>A MANE Select	NP_000029.2:p.Ser2498Thr
NM_001127510.3:c.7492T>A	NP_001120982.1:p.Ser2498Thr
NM_001127511.3:c.7438T>A	NP_001120983.2:p.Ser2480Thr
NM_001354895.2:c.7492T>A	NP_001341824.1:p.Ser2498Thr
NM_001354896.2:c.7546T>A	NP_001341825.1:p.Ser2516Thr
NM_001354897.2:c.7522T>A	NP_001341826.1:p.Ser2508Thr
NM_001354898.2:c.7417T>A	NP_001341827.1:p.Ser2473Thr
NM_001354899.2:c.7408T>A	NP_001341828.1:p.Ser2470Thr
NM_001354900.2:c.7369T>A	NP_001341829.1:p.Ser2457Thr
NM_001354901.2:c.7315T>A	NP_001341830.1:p.Ser2439Thr
NM_001354902.2:c.7219T>A	NP_001341831.1:p.Ser2407Thr
NM_001354903.2:c.7189T>A	NP_001341832.1:p.Ser2397Thr
NM_001354904.2:c.7114T>A	NP_001341833.1:p.Ser2372Thr
NM_001354905.2:c.7012T>A	NP_001341834.1:p.Ser2338Thr
NM_001354906.2:c.6643T>A	NP_001341835.1:p.Ser2215Thr