Canonical Allele Identifier: CA047997

Gene: APC

Linked Data

• ClinVar Variation Id: 371793
• ClinVar RCV Id: RCV000410564 ; RCV001026397 ; RCV003535693
• dbSNP Id: rs375586273
• ExAC: 5:112178693 T / G
• gnomAD v2: 5-112178693-T-G
• MyVariant Identifiers: chr5:g.112178693T>G (hg19) ; chr5:g.112842996T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112842996T>G , CM000667.2:g.112842996T>G	GRCh38
NC_000005.9:g.112178693T>G , CM000667.1:g.112178693T>G	GRCh37
NC_000005.8:g.112206592T>G	NCBI36
NG_008481.4:g.155476T>G , LRG_130:g.155476T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.7456T>G	ENSP00000473355.2:p.Ser2486Ala
ENST00000505350.2:c.*7408T>G	ENSP00000481752.1:n.*7408T>G
ENST00000507379.6:c.7348T>G	ENSP00000423224.2:p.Ser2450Ala
ENST00000509732.6:c.7402T>G	ENSP00000426541.2:p.Ser2468Ala
ENST00000512211.7:c.7402T>G	ENSP00000423828.3:p.Ser2468Ala
ENST00000257430.9:c.7402T>G MANE Select	ENSP00000257430.4:p.Ser2468Ala
ENST00000257430.8:c.7402T>G	ENSP00000257430.4:p.Ser2468Ala
ENST00000508376.6:c.7402T>G	ENSP00000427089.2:p.Ser2468Ala
ENST00000520401.1:c.231-13653T>G
NM_000038.5:c.7402T>G	NP_000029.2:p.Ser2468Ala
NM_001127510.2:c.7402T>G	NP_001120982.1:p.Ser2468Ala
NM_001127511.2:c.7348T>G	NP_001120983.2:p.Ser2450Ala
NM_001354895.1:c.7402T>G	NP_001341824.1:p.Ser2468Ala
NM_001354896.1:c.7456T>G	NP_001341825.1:p.Ser2486Ala
NM_001354897.1:c.7432T>G	NP_001341826.1:p.Ser2478Ala
NM_001354898.1:c.7327T>G	NP_001341827.1:p.Ser2443Ala
NM_001354899.1:c.7318T>G	NP_001341828.1:p.Ser2440Ala
NM_001354900.1:c.7279T>G	NP_001341829.1:p.Ser2427Ala
NM_001354901.1:c.7225T>G	NP_001341830.1:p.Ser2409Ala
NM_001354902.1:c.7129T>G	NP_001341831.1:p.Ser2377Ala
NM_001354903.1:c.7099T>G	NP_001341832.1:p.Ser2367Ala
NM_001354904.1:c.7024T>G	NP_001341833.1:p.Ser2342Ala
NM_001354905.1:c.6922T>G	NP_001341834.1:p.Ser2308Ala
NM_001354906.1:c.6553T>G	NP_001341835.1:p.Ser2185Ala
NM_000038.6:c.7402T>G MANE Select	NP_000029.2:p.Ser2468Ala
NM_001127510.3:c.7402T>G	NP_001120982.1:p.Ser2468Ala
NM_001127511.3:c.7348T>G	NP_001120983.2:p.Ser2450Ala
NM_001354895.2:c.7402T>G	NP_001341824.1:p.Ser2468Ala
NM_001354896.2:c.7456T>G	NP_001341825.1:p.Ser2486Ala
NM_001354897.2:c.7432T>G	NP_001341826.1:p.Ser2478Ala
NM_001354898.2:c.7327T>G	NP_001341827.1:p.Ser2443Ala
NM_001354899.2:c.7318T>G	NP_001341828.1:p.Ser2440Ala
NM_001354900.2:c.7279T>G	NP_001341829.1:p.Ser2427Ala
NM_001354901.2:c.7225T>G	NP_001341830.1:p.Ser2409Ala
NM_001354902.2:c.7129T>G	NP_001341831.1:p.Ser2377Ala
NM_001354903.2:c.7099T>G	NP_001341832.1:p.Ser2367Ala
NM_001354904.2:c.7024T>G	NP_001341833.1:p.Ser2342Ala
NM_001354905.2:c.6922T>G	NP_001341834.1:p.Ser2308Ala
NM_001354906.2:c.6553T>G	NP_001341835.1:p.Ser2185Ala