Canonical Allele Identifier: CA16031465

Gene: APC

Linked Data

• ClinVar Variation Id: 482322
• ClinVar RCV Id: RCV000574030 ; RCV003537129
• dbSNP Id: rs1554086026
• gnomAD v4: 5-112840219-C-G
• MyVariant Identifiers: chr5:g.112175916C>G (hg19) ; chr5:g.112840219C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112840219C>G , CM000667.2:g.112840219C>G	GRCh38
NC_000005.9:g.112175916C>G , CM000667.1:g.112175916C>G	GRCh37
NC_000005.8:g.112203815C>G	NCBI36
NG_008481.4:g.152699C>G , LRG_130:g.152699C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.4679C>G	ENSP00000473355.2:p.Pro1560Arg
ENST00000505350.2:c.*4631C>G	ENSP00000481752.1:n.*4631C>G
ENST00000507379.6:c.4571C>G	ENSP00000423224.2:p.Pro1524Arg
ENST00000509732.6:c.4625C>G	ENSP00000426541.2:p.Pro1542Arg
ENST00000512211.7:c.4625C>G	ENSP00000423828.3:p.Pro1542Arg
ENST00000257430.9:c.4625C>G MANE Select	ENSP00000257430.4:p.Pro1542Arg
ENST00000257430.8:c.4625C>G	ENSP00000257430.4:p.Pro1542Arg
ENST00000508376.6:c.4625C>G	ENSP00000427089.2:p.Pro1542Arg
ENST00000508624.5:c.*3947C>G	ENSP00000424265.1:n.*3947C>G
ENST00000520401.1:c.230+11247C>G
NM_000038.5:c.4625C>G	NP_000029.2:p.Pro1542Arg
NM_001127510.2:c.4625C>G	NP_001120982.1:p.Pro1542Arg
NM_001127511.2:c.4571C>G	NP_001120983.2:p.Pro1524Arg
NM_001354895.1:c.4625C>G	NP_001341824.1:p.Pro1542Arg
NM_001354896.1:c.4679C>G	NP_001341825.1:p.Pro1560Arg
NM_001354897.1:c.4655C>G	NP_001341826.1:p.Pro1552Arg
NM_001354898.1:c.4550C>G	NP_001341827.1:p.Pro1517Arg
NM_001354899.1:c.4541C>G	NP_001341828.1:p.Pro1514Arg
NM_001354900.1:c.4502C>G	NP_001341829.1:p.Pro1501Arg
NM_001354901.1:c.4448C>G	NP_001341830.1:p.Pro1483Arg
NM_001354902.1:c.4352C>G	NP_001341831.1:p.Pro1451Arg
NM_001354903.1:c.4322C>G	NP_001341832.1:p.Pro1441Arg
NM_001354904.1:c.4247C>G	NP_001341833.1:p.Pro1416Arg
NM_001354905.1:c.4145C>G	NP_001341834.1:p.Pro1382Arg
NM_001354906.1:c.3776C>G	NP_001341835.1:p.Pro1259Arg
NM_000038.6:c.4625C>G MANE Select	NP_000029.2:p.Pro1542Arg
NM_001127510.3:c.4625C>G	NP_001120982.1:p.Pro1542Arg
NM_001127511.3:c.4571C>G	NP_001120983.2:p.Pro1524Arg
NM_001354895.2:c.4625C>G	NP_001341824.1:p.Pro1542Arg
NM_001354896.2:c.4679C>G	NP_001341825.1:p.Pro1560Arg
NM_001354897.2:c.4655C>G	NP_001341826.1:p.Pro1552Arg
NM_001354898.2:c.4550C>G	NP_001341827.1:p.Pro1517Arg
NM_001354899.2:c.4541C>G	NP_001341828.1:p.Pro1514Arg
NM_001354900.2:c.4502C>G	NP_001341829.1:p.Pro1501Arg
NM_001354901.2:c.4448C>G	NP_001341830.1:p.Pro1483Arg
NM_001354902.2:c.4352C>G	NP_001341831.1:p.Pro1451Arg
NM_001354903.2:c.4322C>G	NP_001341832.1:p.Pro1441Arg
NM_001354904.2:c.4247C>G	NP_001341833.1:p.Pro1416Arg
NM_001354905.2:c.4145C>G	NP_001341834.1:p.Pro1382Arg
NM_001354906.2:c.3776C>G	NP_001341835.1:p.Pro1259Arg