Canonical Allele Identifier: CA16023886

Gene: APC

Linked Data

• ClinVar Variation Id: 428093
• ClinVar RCV Id: RCV000491623 ; RCV003335378 ; RCV002527051 ; RCV003330724
• dbSNP Id: rs1114167545
• MyVariant Identifiers: chr5:g.112154907C>G (hg19) ; chr5:g.112819210C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112819210C>G , CM000667.2:g.112819210C>G	GRCh38
NC_000005.9:g.112154907C>G , CM000667.1:g.112154907C>G	GRCh37
NC_000005.8:g.112182806C>G	NCBI36
NG_008481.4:g.131690C>G , LRG_130:g.131690C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502371.3:c.1178C>G	ENSP00000484935.2:p.Ser393Ter
ENST00000504915.3:c.1178C>G	ENSP00000473355.2:p.Ser393Ter
ENST00000505084.2:n.1234C>G
ENST00000505350.2:c.*1184C>G	ENSP00000481752.1:n.*1184C>G
ENST00000507379.6:c.1124C>G	ENSP00000423224.2:p.Ser375Ter
ENST00000509732.6:c.1178C>G	ENSP00000426541.2:p.Ser393Ter
ENST00000512211.7:c.1178C>G	ENSP00000423828.3:p.Ser393Ter
ENST00000257430.9:c.1178C>G MANE Select	ENSP00000257430.4:p.Ser393Ter
ENST00000257430.8:c.1178C>G	ENSP00000257430.4:p.Ser393Ter
ENST00000507379.5:c.1124C>G	ENSP00000423224.1:p.Ser375Ter
ENST00000508376.6:c.1178C>G	ENSP00000427089.2:p.Ser393Ter
ENST00000508624.5:c.*500C>G	ENSP00000424265.1:n.*500C>G
ENST00000512211.6:c.1178C>G	ENSP00000423828.2:p.Ser393Ter
NM_000038.5:c.1178C>G	NP_000029.2:p.Ser393Ter
NM_001127510.2:c.1178C>G	NP_001120982.1:p.Ser393Ter
NM_001127511.2:c.1124C>G	NP_001120983.2:p.Ser375Ter
NM_001354895.1:c.1178C>G	NP_001341824.1:p.Ser393Ter
NM_001354896.1:c.1178C>G	NP_001341825.1:p.Ser393Ter
NM_001354897.1:c.1208C>G	NP_001341826.1:p.Ser403Ter
NM_001354898.1:c.1103C>G	NP_001341827.1:p.Ser368Ter
NM_001354899.1:c.1094C>G	NP_001341828.1:p.Ser365Ter
NM_001354900.1:c.1001C>G	NP_001341829.1:p.Ser334Ter
NM_001354901.1:c.1001C>G	NP_001341830.1:p.Ser334Ter
NM_001354902.1:c.964-59C>G	NP_001341831.1:n.964-59C>G
NM_001354903.1:c.934-59C>G	NP_001341832.1:n.934-59C>G
NM_001354904.1:c.859-59C>G	NP_001341833.1:n.859-59C>G
NM_001354905.1:c.757-59C>G	NP_001341834.1:n.757-59C>G
NM_001354906.1:c.329C>G	NP_001341835.1:p.Ser110Ter
NM_000038.6:c.1178C>G MANE Select	NP_000029.2:p.Ser393Ter
NM_001127510.3:c.1178C>G	NP_001120982.1:p.Ser393Ter
NM_001127511.3:c.1124C>G	NP_001120983.2:p.Ser375Ter
NM_001354895.2:c.1178C>G	NP_001341824.1:p.Ser393Ter
NM_001354896.2:c.1178C>G	NP_001341825.1:p.Ser393Ter
NM_001354897.2:c.1208C>G	NP_001341826.1:p.Ser403Ter
NM_001354898.2:c.1103C>G	NP_001341827.1:p.Ser368Ter
NM_001354899.2:c.1094C>G	NP_001341828.1:p.Ser365Ter
NM_001354900.2:c.1001C>G	NP_001341829.1:p.Ser334Ter
NM_001354901.2:c.1001C>G	NP_001341830.1:p.Ser334Ter
NM_001354902.2:c.964-59C>G	NP_001341831.1:n.964-59C>G
NM_001354903.2:c.934-59C>G	NP_001341832.1:n.934-59C>G
NM_001354904.2:c.859-59C>G	NP_001341833.1:n.859-59C>G
NM_001354905.2:c.757-59C>G	NP_001341834.1:n.757-59C>G
NM_001354906.2:c.329C>G	NP_001341835.1:p.Ser110Ter