Canonical Allele Identifier: CA040334

Gene: APC

Linked Data

• ClinVar Variation Id: 482472
• ClinVar RCV Id: RCV000564876 ; RCV002232130 ; RCV004000995
• dbSNP Id: rs764731359
• ExAC: 5:112176288 C / G
• gnomAD v2: 5-112176288-C-G
• gnomAD v4: 5-112840591-C-G
• MyVariant Identifiers: chr5:g.112176288C>G (hg19) ; chr5:g.112840591C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112840591C>G , CM000667.2:g.112840591C>G	GRCh38
NC_000005.9:g.112176288C>G , CM000667.1:g.112176288C>G	GRCh37
NC_000005.8:g.112204187C>G	NCBI36
NG_008481.4:g.153071C>G , LRG_130:g.153071C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.5051C>G	ENSP00000473355.2:p.Pro1684Arg
ENST00000505350.2:c.*5003C>G	ENSP00000481752.1:n.*5003C>G
ENST00000507379.6:c.4943C>G	ENSP00000423224.2:p.Pro1648Arg
ENST00000509732.6:c.4997C>G	ENSP00000426541.2:p.Pro1666Arg
ENST00000512211.7:c.4997C>G	ENSP00000423828.3:p.Pro1666Arg
ENST00000257430.9:c.4997C>G MANE Select	ENSP00000257430.4:p.Pro1666Arg
ENST00000257430.8:c.4997C>G	ENSP00000257430.4:p.Pro1666Arg
ENST00000508376.6:c.4997C>G	ENSP00000427089.2:p.Pro1666Arg
ENST00000508624.5:c.*4319C>G	ENSP00000424265.1:n.*4319C>G
ENST00000520401.1:c.230+11619C>G
NM_000038.5:c.4997C>G	NP_000029.2:p.Pro1666Arg
NM_001127510.2:c.4997C>G	NP_001120982.1:p.Pro1666Arg
NM_001127511.2:c.4943C>G	NP_001120983.2:p.Pro1648Arg
NM_001354895.1:c.4997C>G	NP_001341824.1:p.Pro1666Arg
NM_001354896.1:c.5051C>G	NP_001341825.1:p.Pro1684Arg
NM_001354897.1:c.5027C>G	NP_001341826.1:p.Pro1676Arg
NM_001354898.1:c.4922C>G	NP_001341827.1:p.Pro1641Arg
NM_001354899.1:c.4913C>G	NP_001341828.1:p.Pro1638Arg
NM_001354900.1:c.4874C>G	NP_001341829.1:p.Pro1625Arg
NM_001354901.1:c.4820C>G	NP_001341830.1:p.Pro1607Arg
NM_001354902.1:c.4724C>G	NP_001341831.1:p.Pro1575Arg
NM_001354903.1:c.4694C>G	NP_001341832.1:p.Pro1565Arg
NM_001354904.1:c.4619C>G	NP_001341833.1:p.Pro1540Arg
NM_001354905.1:c.4517C>G	NP_001341834.1:p.Pro1506Arg
NM_001354906.1:c.4148C>G	NP_001341835.1:p.Pro1383Arg
NM_000038.6:c.4997C>G MANE Select	NP_000029.2:p.Pro1666Arg
NM_001127510.3:c.4997C>G	NP_001120982.1:p.Pro1666Arg
NM_001127511.3:c.4943C>G	NP_001120983.2:p.Pro1648Arg
NM_001354895.2:c.4997C>G	NP_001341824.1:p.Pro1666Arg
NM_001354896.2:c.5051C>G	NP_001341825.1:p.Pro1684Arg
NM_001354897.2:c.5027C>G	NP_001341826.1:p.Pro1676Arg
NM_001354898.2:c.4922C>G	NP_001341827.1:p.Pro1641Arg
NM_001354899.2:c.4913C>G	NP_001341828.1:p.Pro1638Arg
NM_001354900.2:c.4874C>G	NP_001341829.1:p.Pro1625Arg
NM_001354901.2:c.4820C>G	NP_001341830.1:p.Pro1607Arg
NM_001354902.2:c.4724C>G	NP_001341831.1:p.Pro1575Arg
NM_001354903.2:c.4694C>G	NP_001341832.1:p.Pro1565Arg
NM_001354904.2:c.4619C>G	NP_001341833.1:p.Pro1540Arg
NM_001354905.2:c.4517C>G	NP_001341834.1:p.Pro1506Arg
NM_001354906.2:c.4148C>G	NP_001341835.1:p.Pro1383Arg