Canonical Allele Identifier: CA16032181

Gene: APC

Linked Data

• ClinVar Variation Id: 2726917
• ClinVar RCV Id: RCV003539016
• MyVariant Identifiers: chr5:g.112176245T>G (hg19) ; chr5:g.112840548T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112840548T>G , CM000667.2:g.112840548T>G	GRCh38
NC_000005.9:g.112176245T>G , CM000667.1:g.112176245T>G	GRCh37
NC_000005.8:g.112204144T>G	NCBI36
NG_008481.4:g.153028T>G , LRG_130:g.153028T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.5008T>G	ENSP00000473355.2:p.Ser1670Ala
ENST00000505350.2:c.*4960T>G	ENSP00000481752.1:n.*4960T>G
ENST00000507379.6:c.4900T>G	ENSP00000423224.2:p.Ser1634Ala
ENST00000509732.6:c.4954T>G	ENSP00000426541.2:p.Ser1652Ala
ENST00000512211.7:c.4954T>G	ENSP00000423828.3:p.Ser1652Ala
ENST00000257430.9:c.4954T>G MANE Select	ENSP00000257430.4:p.Ser1652Ala
ENST00000257430.8:c.4954T>G	ENSP00000257430.4:p.Ser1652Ala
ENST00000508376.6:c.4954T>G	ENSP00000427089.2:p.Ser1652Ala
ENST00000508624.5:c.*4276T>G	ENSP00000424265.1:n.*4276T>G
ENST00000520401.1:c.230+11576T>G
NM_000038.5:c.4954T>G	NP_000029.2:p.Ser1652Ala
NM_001127510.2:c.4954T>G	NP_001120982.1:p.Ser1652Ala
NM_001127511.2:c.4900T>G	NP_001120983.2:p.Ser1634Ala
NM_001354895.1:c.4954T>G	NP_001341824.1:p.Ser1652Ala
NM_001354896.1:c.5008T>G	NP_001341825.1:p.Ser1670Ala
NM_001354897.1:c.4984T>G	NP_001341826.1:p.Ser1662Ala
NM_001354898.1:c.4879T>G	NP_001341827.1:p.Ser1627Ala
NM_001354899.1:c.4870T>G	NP_001341828.1:p.Ser1624Ala
NM_001354900.1:c.4831T>G	NP_001341829.1:p.Ser1611Ala
NM_001354901.1:c.4777T>G	NP_001341830.1:p.Ser1593Ala
NM_001354902.1:c.4681T>G	NP_001341831.1:p.Ser1561Ala
NM_001354903.1:c.4651T>G	NP_001341832.1:p.Ser1551Ala
NM_001354904.1:c.4576T>G	NP_001341833.1:p.Ser1526Ala
NM_001354905.1:c.4474T>G	NP_001341834.1:p.Ser1492Ala
NM_001354906.1:c.4105T>G	NP_001341835.1:p.Ser1369Ala
NM_000038.6:c.4954T>G MANE Select	NP_000029.2:p.Ser1652Ala
NM_001127510.3:c.4954T>G	NP_001120982.1:p.Ser1652Ala
NM_001127511.3:c.4900T>G	NP_001120983.2:p.Ser1634Ala
NM_001354895.2:c.4954T>G	NP_001341824.1:p.Ser1652Ala
NM_001354896.2:c.5008T>G	NP_001341825.1:p.Ser1670Ala
NM_001354897.2:c.4984T>G	NP_001341826.1:p.Ser1662Ala
NM_001354898.2:c.4879T>G	NP_001341827.1:p.Ser1627Ala
NM_001354899.2:c.4870T>G	NP_001341828.1:p.Ser1624Ala
NM_001354900.2:c.4831T>G	NP_001341829.1:p.Ser1611Ala
NM_001354901.2:c.4777T>G	NP_001341830.1:p.Ser1593Ala
NM_001354902.2:c.4681T>G	NP_001341831.1:p.Ser1561Ala
NM_001354903.2:c.4651T>G	NP_001341832.1:p.Ser1551Ala
NM_001354904.2:c.4576T>G	NP_001341833.1:p.Ser1526Ala
NM_001354905.2:c.4474T>G	NP_001341834.1:p.Ser1492Ala
NM_001354906.2:c.4105T>G	NP_001341835.1:p.Ser1369Ala