Canonical Allele Identifier: CA16026393

Gene: APC

Linked Data

• ClinVar Variation Id: 2584243
• ClinVar RCV Id: RCV003335691
• dbSNP Id: rs1060503310
• MyVariant Identifiers: chr5:g.112173600C>A (hg19) ; chr5:g.112837903C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112837903C>A , CM000667.2:g.112837903C>A	GRCh38
NC_000005.9:g.112173600C>A , CM000667.1:g.112173600C>A	GRCh37
NC_000005.8:g.112201499C>A	NCBI36
NG_008481.4:g.150383C>A , LRG_130:g.150383C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000502371.3:c.1974C>A	ENSP00000484935.2:n.1974C>A
ENST00000504915.3:c.2363C>A	ENSP00000473355.2:p.Ser788Ter
ENST00000505350.2:c.*2315C>A	ENSP00000481752.1:n.*2315C>A
ENST00000507379.6:c.2255C>A	ENSP00000423224.2:p.Ser752Ter
ENST00000509732.6:c.2309C>A	ENSP00000426541.2:p.Ser770Ter
ENST00000512211.7:c.2309C>A	ENSP00000423828.3:p.Ser770Ter
ENST00000257430.9:c.2309C>A MANE Select	ENSP00000257430.4:p.Ser770Ter
ENST00000257430.8:c.2309C>A	ENSP00000257430.4:p.Ser770Ter
ENST00000502371.2:c.662C>A
ENST00000507379.5:c.2255C>A	ENSP00000423224.1:p.Ser752Ter
ENST00000508376.6:c.2309C>A	ENSP00000427089.2:p.Ser770Ter
ENST00000508624.5:c.*1631C>A	ENSP00000424265.1:n.*1631C>A
ENST00000512211.6:c.2309C>A	ENSP00000423828.2:p.Ser770Ter
ENST00000520401.1:c.230+8931C>A
NM_000038.5:c.2309C>A	NP_000029.2:p.Ser770Ter
NM_001127510.2:c.2309C>A	NP_001120982.1:p.Ser770Ter
NM_001127511.2:c.2255C>A	NP_001120983.2:p.Ser752Ter
NM_001354895.1:c.2309C>A	NP_001341824.1:p.Ser770Ter
NM_001354896.1:c.2363C>A	NP_001341825.1:p.Ser788Ter
NM_001354897.1:c.2339C>A	NP_001341826.1:p.Ser780Ter
NM_001354898.1:c.2234C>A	NP_001341827.1:p.Ser745Ter
NM_001354899.1:c.2225C>A	NP_001341828.1:p.Ser742Ter
NM_001354900.1:c.2186C>A	NP_001341829.1:p.Ser729Ter
NM_001354901.1:c.2132C>A	NP_001341830.1:p.Ser711Ter
NM_001354902.1:c.2036C>A	NP_001341831.1:p.Ser679Ter
NM_001354903.1:c.2006C>A	NP_001341832.1:p.Ser669Ter
NM_001354904.1:c.1931C>A	NP_001341833.1:p.Ser644Ter
NM_001354905.1:c.1829C>A	NP_001341834.1:p.Ser610Ter
NM_001354906.1:c.1460C>A	NP_001341835.1:p.Ser487Ter
NM_000038.6:c.2309C>A MANE Select	NP_000029.2:p.Ser770Ter
NM_001127510.3:c.2309C>A	NP_001120982.1:p.Ser770Ter
NM_001127511.3:c.2255C>A	NP_001120983.2:p.Ser752Ter
NM_001354895.2:c.2309C>A	NP_001341824.1:p.Ser770Ter
NM_001354896.2:c.2363C>A	NP_001341825.1:p.Ser788Ter
NM_001354897.2:c.2339C>A	NP_001341826.1:p.Ser780Ter
NM_001354898.2:c.2234C>A	NP_001341827.1:p.Ser745Ter
NM_001354899.2:c.2225C>A	NP_001341828.1:p.Ser742Ter
NM_001354900.2:c.2186C>A	NP_001341829.1:p.Ser729Ter
NM_001354901.2:c.2132C>A	NP_001341830.1:p.Ser711Ter
NM_001354902.2:c.2036C>A	NP_001341831.1:p.Ser679Ter
NM_001354903.2:c.2006C>A	NP_001341832.1:p.Ser669Ter
NM_001354904.2:c.1931C>A	NP_001341833.1:p.Ser644Ter
NM_001354905.2:c.1829C>A	NP_001341834.1:p.Ser610Ter
NM_001354906.2:c.1460C>A	NP_001341835.1:p.Ser487Ter