Canonical Allele Identifier: CA16024195

Gene: APC

Linked Data

• ClinVar Variation Id: 628543
• ClinVar RCV Id: RCV000773026 ; RCV000780850
• dbSNP Id: rs1561545834
• MyVariant Identifiers: chr5:g.112157599C>G (hg19) ; chr5:g.112821902C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112821902C>G , CM000667.2:g.112821902C>G	GRCh38
NC_000005.9:g.112157599C>G , CM000667.1:g.112157599C>G	GRCh37
NC_000005.8:g.112185498C>G	NCBI36
NG_008481.4:g.134382C>G , LRG_130:g.134382C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000502371.3:c.1319C>G	ENSP00000484935.2:p.Ala440Gly
ENST00000504915.3:c.1319C>G	ENSP00000473355.2:p.Ala440Gly
ENST00000505084.2:n.1375C>G
ENST00000505350.2:c.*1325C>G	ENSP00000481752.1:n.*1325C>G
ENST00000507379.6:c.1265C>G	ENSP00000423224.2:p.Ala422Gly
ENST00000509732.6:c.1319C>G	ENSP00000426541.2:p.Ala440Gly
ENST00000512211.7:c.1319C>G	ENSP00000423828.3:p.Ala440Gly
ENST00000257430.9:c.1319C>G MANE Select	ENSP00000257430.4:p.Ala440Gly
ENST00000257430.8:c.1319C>G	ENSP00000257430.4:p.Ala440Gly
ENST00000502371.2:c.7C>G
ENST00000507379.5:c.1265C>G	ENSP00000423224.1:p.Ala422Gly
ENST00000508376.6:c.1319C>G	ENSP00000427089.2:p.Ala440Gly
ENST00000508624.5:c.*641C>G	ENSP00000424265.1:n.*641C>G
ENST00000512211.6:c.1319C>G	ENSP00000423828.2:p.Ala440Gly
NM_000038.5:c.1319C>G	NP_000029.2:p.Ala440Gly
NM_001127510.2:c.1319C>G	NP_001120982.1:p.Ala440Gly
NM_001127511.2:c.1265C>G	NP_001120983.2:p.Ala422Gly
NM_001354895.1:c.1319C>G	NP_001341824.1:p.Ala440Gly
NM_001354896.1:c.1319C>G	NP_001341825.1:p.Ala440Gly
NM_001354897.1:c.1349C>G	NP_001341826.1:p.Ala450Gly
NM_001354898.1:c.1244C>G	NP_001341827.1:p.Ala415Gly
NM_001354899.1:c.1235C>G	NP_001341828.1:p.Ala412Gly
NM_001354900.1:c.1142C>G	NP_001341829.1:p.Ala381Gly
NM_001354901.1:c.1142C>G	NP_001341830.1:p.Ala381Gly
NM_001354902.1:c.1046C>G	NP_001341831.1:p.Ala349Gly
NM_001354903.1:c.1016C>G	NP_001341832.1:p.Ala339Gly
NM_001354904.1:c.941C>G	NP_001341833.1:p.Ala314Gly
NM_001354905.1:c.839C>G	NP_001341834.1:p.Ala280Gly
NM_001354906.1:c.470C>G	NP_001341835.1:p.Ala157Gly
NM_000038.6:c.1319C>G MANE Select	NP_000029.2:p.Ala440Gly
NM_001127510.3:c.1319C>G	NP_001120982.1:p.Ala440Gly
NM_001127511.3:c.1265C>G	NP_001120983.2:p.Ala422Gly
NM_001354895.2:c.1319C>G	NP_001341824.1:p.Ala440Gly
NM_001354896.2:c.1319C>G	NP_001341825.1:p.Ala440Gly
NM_001354897.2:c.1349C>G	NP_001341826.1:p.Ala450Gly
NM_001354898.2:c.1244C>G	NP_001341827.1:p.Ala415Gly
NM_001354899.2:c.1235C>G	NP_001341828.1:p.Ala412Gly
NM_001354900.2:c.1142C>G	NP_001341829.1:p.Ala381Gly
NM_001354901.2:c.1142C>G	NP_001341830.1:p.Ala381Gly
NM_001354902.2:c.1046C>G	NP_001341831.1:p.Ala349Gly
NM_001354903.2:c.1016C>G	NP_001341832.1:p.Ala339Gly
NM_001354904.2:c.941C>G	NP_001341833.1:p.Ala314Gly
NM_001354905.2:c.839C>G	NP_001341834.1:p.Ala280Gly
NM_001354906.2:c.470C>G	NP_001341835.1:p.Ala157Gly