Canonical Allele Identifier: CA16037721

Gene: APC

Linked Data

• ClinVar Variation Id: 642835
• ClinVar RCV Id: RCV002268286 ; RCV001026543 ; RCV003535879
• dbSNP Id: rs545125246
• MyVariant Identifiers: chr5:g.112178831A>T (hg19) ; chr5:g.112843134A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112843134A>T , CM000667.2:g.112843134A>T	GRCh38
NC_000005.9:g.112178831A>T , CM000667.1:g.112178831A>T	GRCh37
NC_000005.8:g.112206730A>T	NCBI36
NG_008481.4:g.155614A>T , LRG_130:g.155614A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.7594A>T	ENSP00000473355.2:p.Thr2532Ser
ENST00000505350.2:c.*7546A>T	ENSP00000481752.1:n.*7546A>T
ENST00000507379.6:c.7486A>T	ENSP00000423224.2:p.Thr2496Ser
ENST00000509732.6:c.7540A>T	ENSP00000426541.2:p.Thr2514Ser
ENST00000512211.7:c.7540A>T	ENSP00000423828.3:p.Thr2514Ser
ENST00000257430.9:c.7540A>T MANE Select	ENSP00000257430.4:p.Thr2514Ser
ENST00000257430.8:c.7540A>T	ENSP00000257430.4:p.Thr2514Ser
ENST00000508376.6:c.7540A>T	ENSP00000427089.2:p.Thr2514Ser
ENST00000520401.1:c.231-13515A>T
NM_000038.5:c.7540A>T	NP_000029.2:p.Thr2514Ser
NM_001127510.2:c.7540A>T	NP_001120982.1:p.Thr2514Ser
NM_001127511.2:c.7486A>T	NP_001120983.2:p.Thr2496Ser
NM_001354895.1:c.7540A>T	NP_001341824.1:p.Thr2514Ser
NM_001354896.1:c.7594A>T	NP_001341825.1:p.Thr2532Ser
NM_001354897.1:c.7570A>T	NP_001341826.1:p.Thr2524Ser
NM_001354898.1:c.7465A>T	NP_001341827.1:p.Thr2489Ser
NM_001354899.1:c.7456A>T	NP_001341828.1:p.Thr2486Ser
NM_001354900.1:c.7417A>T	NP_001341829.1:p.Thr2473Ser
NM_001354901.1:c.7363A>T	NP_001341830.1:p.Thr2455Ser
NM_001354902.1:c.7267A>T	NP_001341831.1:p.Thr2423Ser
NM_001354903.1:c.7237A>T	NP_001341832.1:p.Thr2413Ser
NM_001354904.1:c.7162A>T	NP_001341833.1:p.Thr2388Ser
NM_001354905.1:c.7060A>T	NP_001341834.1:p.Thr2354Ser
NM_001354906.1:c.6691A>T	NP_001341835.1:p.Thr2231Ser
NM_000038.6:c.7540A>T MANE Select	NP_000029.2:p.Thr2514Ser
NM_001127510.3:c.7540A>T	NP_001120982.1:p.Thr2514Ser
NM_001127511.3:c.7486A>T	NP_001120983.2:p.Thr2496Ser
NM_001354895.2:c.7540A>T	NP_001341824.1:p.Thr2514Ser
NM_001354896.2:c.7594A>T	NP_001341825.1:p.Thr2532Ser
NM_001354897.2:c.7570A>T	NP_001341826.1:p.Thr2524Ser
NM_001354898.2:c.7465A>T	NP_001341827.1:p.Thr2489Ser
NM_001354899.2:c.7456A>T	NP_001341828.1:p.Thr2486Ser
NM_001354900.2:c.7417A>T	NP_001341829.1:p.Thr2473Ser
NM_001354901.2:c.7363A>T	NP_001341830.1:p.Thr2455Ser
NM_001354902.2:c.7267A>T	NP_001341831.1:p.Thr2423Ser
NM_001354903.2:c.7237A>T	NP_001341832.1:p.Thr2413Ser
NM_001354904.2:c.7162A>T	NP_001341833.1:p.Thr2388Ser
NM_001354905.2:c.7060A>T	NP_001341834.1:p.Thr2354Ser
NM_001354906.2:c.6691A>T	NP_001341835.1:p.Thr2231Ser