Canonical Allele Identifier: CA16037607

Gene: APC

Linked Data

• ClinVar Variation Id: 2792114
• ClinVar RCV Id: RCV003745801
• dbSNP Id: rs2149988014
• MyVariant Identifiers: chr5:g.112178774A>G (hg19) ; chr5:g.112843077A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112843077A>G , CM000667.2:g.112843077A>G	GRCh38
NC_000005.9:g.112178774A>G , CM000667.1:g.112178774A>G	GRCh37
NC_000005.8:g.112206673A>G	NCBI36
NG_008481.4:g.155557A>G , LRG_130:g.155557A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.7537A>G	ENSP00000473355.2:p.Thr2513Ala
ENST00000505350.2:c.*7489A>G	ENSP00000481752.1:n.*7489A>G
ENST00000507379.6:c.7429A>G	ENSP00000423224.2:p.Thr2477Ala
ENST00000509732.6:c.7483A>G	ENSP00000426541.2:p.Thr2495Ala
ENST00000512211.7:c.7483A>G	ENSP00000423828.3:p.Thr2495Ala
ENST00000257430.9:c.7483A>G MANE Select	ENSP00000257430.4:p.Thr2495Ala
ENST00000257430.8:c.7483A>G	ENSP00000257430.4:p.Thr2495Ala
ENST00000508376.6:c.7483A>G	ENSP00000427089.2:p.Thr2495Ala
ENST00000520401.1:c.231-13572A>G
NM_000038.5:c.7483A>G	NP_000029.2:p.Thr2495Ala
NM_001127510.2:c.7483A>G	NP_001120982.1:p.Thr2495Ala
NM_001127511.2:c.7429A>G	NP_001120983.2:p.Thr2477Ala
NM_001354895.1:c.7483A>G	NP_001341824.1:p.Thr2495Ala
NM_001354896.1:c.7537A>G	NP_001341825.1:p.Thr2513Ala
NM_001354897.1:c.7513A>G	NP_001341826.1:p.Thr2505Ala
NM_001354898.1:c.7408A>G	NP_001341827.1:p.Thr2470Ala
NM_001354899.1:c.7399A>G	NP_001341828.1:p.Thr2467Ala
NM_001354900.1:c.7360A>G	NP_001341829.1:p.Thr2454Ala
NM_001354901.1:c.7306A>G	NP_001341830.1:p.Thr2436Ala
NM_001354902.1:c.7210A>G	NP_001341831.1:p.Thr2404Ala
NM_001354903.1:c.7180A>G	NP_001341832.1:p.Thr2394Ala
NM_001354904.1:c.7105A>G	NP_001341833.1:p.Thr2369Ala
NM_001354905.1:c.7003A>G	NP_001341834.1:p.Thr2335Ala
NM_001354906.1:c.6634A>G	NP_001341835.1:p.Thr2212Ala
NM_000038.6:c.7483A>G MANE Select	NP_000029.2:p.Thr2495Ala
NM_001127510.3:c.7483A>G	NP_001120982.1:p.Thr2495Ala
NM_001127511.3:c.7429A>G	NP_001120983.2:p.Thr2477Ala
NM_001354895.2:c.7483A>G	NP_001341824.1:p.Thr2495Ala
NM_001354896.2:c.7537A>G	NP_001341825.1:p.Thr2513Ala
NM_001354897.2:c.7513A>G	NP_001341826.1:p.Thr2505Ala
NM_001354898.2:c.7408A>G	NP_001341827.1:p.Thr2470Ala
NM_001354899.2:c.7399A>G	NP_001341828.1:p.Thr2467Ala
NM_001354900.2:c.7360A>G	NP_001341829.1:p.Thr2454Ala
NM_001354901.2:c.7306A>G	NP_001341830.1:p.Thr2436Ala
NM_001354902.2:c.7210A>G	NP_001341831.1:p.Thr2404Ala
NM_001354903.2:c.7180A>G	NP_001341832.1:p.Thr2394Ala
NM_001354904.2:c.7105A>G	NP_001341833.1:p.Thr2369Ala
NM_001354905.2:c.7003A>G	NP_001341834.1:p.Thr2335Ala
NM_001354906.2:c.6634A>G	NP_001341835.1:p.Thr2212Ala