Canonical Allele Identifier: CA445963455

Gene: APC

Linked Data

• ClinVar Variation Id: 485100
• ClinVar RCV Id: RCV000568063 ; RCV003478272 ; RCV003537182 ; RCV004024506
• dbSNP Id: rs1554083964
• MyVariant Identifiers: chr5:g.112173430A>G (hg19) ; chr5:g.112837733A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112837733A>G , CM000667.2:g.112837733A>G	GRCh38
NC_000005.9:g.112173430A>G , CM000667.1:g.112173430A>G	GRCh37
NC_000005.8:g.112201329A>G	NCBI36
NG_008481.4:g.150213A>G , LRG_130:g.150213A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502371.3:c.1804A>G	ENSP00000484935.2:n.1804A>G
ENST00000504915.3:c.2193A>G	ENSP00000473355.2:p.Ser731=
ENST00000505350.2:c.*2145A>G	ENSP00000481752.1:n.*2145A>G
ENST00000507379.6:c.2085A>G	ENSP00000423224.2:p.Ser695=
ENST00000509732.6:c.2139A>G	ENSP00000426541.2:p.Ser713=
ENST00000512211.7:c.2139A>G	ENSP00000423828.3:p.Ser713=
ENST00000257430.9:c.2139A>G MANE Select	ENSP00000257430.4:p.Ser713=
ENST00000257430.8:c.2139A>G	ENSP00000257430.4:p.Ser713=
ENST00000502371.2:c.492A>G
ENST00000507379.5:c.2085A>G	ENSP00000423224.1:p.Ser695=
ENST00000508376.6:c.2139A>G	ENSP00000427089.2:p.Ser713=
ENST00000508624.5:c.*1461A>G	ENSP00000424265.1:n.*1461A>G
ENST00000512211.6:c.2139A>G	ENSP00000423828.2:p.Ser713=
ENST00000520401.1:c.230+8761A>G
NM_000038.5:c.2139A>G	NP_000029.2:p.Ser713=
NM_001127510.2:c.2139A>G	NP_001120982.1:p.Ser713=
NM_001127511.2:c.2085A>G	NP_001120983.2:p.Ser695=
NM_001354895.1:c.2139A>G	NP_001341824.1:p.Ser713=
NM_001354896.1:c.2193A>G	NP_001341825.1:p.Ser731=
NM_001354897.1:c.2169A>G	NP_001341826.1:p.Ser723=
NM_001354898.1:c.2064A>G	NP_001341827.1:p.Ser688=
NM_001354899.1:c.2055A>G	NP_001341828.1:p.Ser685=
NM_001354900.1:c.2016A>G	NP_001341829.1:p.Ser672=
NM_001354901.1:c.1962A>G	NP_001341830.1:p.Ser654=
NM_001354902.1:c.1866A>G	NP_001341831.1:p.Ser622=
NM_001354903.1:c.1836A>G	NP_001341832.1:p.Ser612=
NM_001354904.1:c.1761A>G	NP_001341833.1:p.Ser587=
NM_001354905.1:c.1659A>G	NP_001341834.1:p.Ser553=
NM_001354906.1:c.1290A>G	NP_001341835.1:p.Ser430=
NM_000038.6:c.2139A>G MANE Select	NP_000029.2:p.Ser713=
NM_001127510.3:c.2139A>G	NP_001120982.1:p.Ser713=
NM_001127511.3:c.2085A>G	NP_001120983.2:p.Ser695=
NM_001354895.2:c.2139A>G	NP_001341824.1:p.Ser713=
NM_001354896.2:c.2193A>G	NP_001341825.1:p.Ser731=
NM_001354897.2:c.2169A>G	NP_001341826.1:p.Ser723=
NM_001354898.2:c.2064A>G	NP_001341827.1:p.Ser688=
NM_001354899.2:c.2055A>G	NP_001341828.1:p.Ser685=
NM_001354900.2:c.2016A>G	NP_001341829.1:p.Ser672=
NM_001354901.2:c.1962A>G	NP_001341830.1:p.Ser654=
NM_001354902.2:c.1866A>G	NP_001341831.1:p.Ser622=
NM_001354903.2:c.1836A>G	NP_001341832.1:p.Ser612=
NM_001354904.2:c.1761A>G	NP_001341833.1:p.Ser587=
NM_001354905.2:c.1659A>G	NP_001341834.1:p.Ser553=
NM_001354906.2:c.1290A>G	NP_001341835.1:p.Ser430=