Canonical Allele Identifier: CA16031569

Gene: APC

Linked Data

• ClinVar Variation Id: 576540
• ClinVar RCV Id: RCV003534673
• dbSNP Id: rs769121879
• MyVariant Identifiers: chr5:g.112175961T>G (hg19) ; chr5:g.112840264T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112840264T>G , CM000667.2:g.112840264T>G	GRCh38
NC_000005.9:g.112175961T>G , CM000667.1:g.112175961T>G	GRCh37
NC_000005.8:g.112203860T>G	NCBI36
NG_008481.4:g.152744T>G , LRG_130:g.152744T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000504915.3:c.4724T>G	ENSP00000473355.2:p.Ile1575Ser
ENST00000505350.2:c.*4676T>G	ENSP00000481752.1:n.*4676T>G
ENST00000507379.6:c.4616T>G	ENSP00000423224.2:p.Ile1539Ser
ENST00000509732.6:c.4670T>G	ENSP00000426541.2:p.Ile1557Ser
ENST00000512211.7:c.4670T>G	ENSP00000423828.3:p.Ile1557Ser
ENST00000257430.9:c.4670T>G MANE Select	ENSP00000257430.4:p.Ile1557Ser
ENST00000257430.8:c.4670T>G	ENSP00000257430.4:p.Ile1557Ser
ENST00000508376.6:c.4670T>G	ENSP00000427089.2:p.Ile1557Ser
ENST00000508624.5:c.*3992T>G	ENSP00000424265.1:n.*3992T>G
ENST00000520401.1:c.230+11292T>G
NM_000038.5:c.4670T>G	NP_000029.2:p.Ile1557Ser
NM_001127510.2:c.4670T>G	NP_001120982.1:p.Ile1557Ser
NM_001127511.2:c.4616T>G	NP_001120983.2:p.Ile1539Ser
NM_001354895.1:c.4670T>G	NP_001341824.1:p.Ile1557Ser
NM_001354896.1:c.4724T>G	NP_001341825.1:p.Ile1575Ser
NM_001354897.1:c.4700T>G	NP_001341826.1:p.Ile1567Ser
NM_001354898.1:c.4595T>G	NP_001341827.1:p.Ile1532Ser
NM_001354899.1:c.4586T>G	NP_001341828.1:p.Ile1529Ser
NM_001354900.1:c.4547T>G	NP_001341829.1:p.Ile1516Ser
NM_001354901.1:c.4493T>G	NP_001341830.1:p.Ile1498Ser
NM_001354902.1:c.4397T>G	NP_001341831.1:p.Ile1466Ser
NM_001354903.1:c.4367T>G	NP_001341832.1:p.Ile1456Ser
NM_001354904.1:c.4292T>G	NP_001341833.1:p.Ile1431Ser
NM_001354905.1:c.4190T>G	NP_001341834.1:p.Ile1397Ser
NM_001354906.1:c.3821T>G	NP_001341835.1:p.Ile1274Ser
NM_000038.6:c.4670T>G MANE Select	NP_000029.2:p.Ile1557Ser
NM_001127510.3:c.4670T>G	NP_001120982.1:p.Ile1557Ser
NM_001127511.3:c.4616T>G	NP_001120983.2:p.Ile1539Ser
NM_001354895.2:c.4670T>G	NP_001341824.1:p.Ile1557Ser
NM_001354896.2:c.4724T>G	NP_001341825.1:p.Ile1575Ser
NM_001354897.2:c.4700T>G	NP_001341826.1:p.Ile1567Ser
NM_001354898.2:c.4595T>G	NP_001341827.1:p.Ile1532Ser
NM_001354899.2:c.4586T>G	NP_001341828.1:p.Ile1529Ser
NM_001354900.2:c.4547T>G	NP_001341829.1:p.Ile1516Ser
NM_001354901.2:c.4493T>G	NP_001341830.1:p.Ile1498Ser
NM_001354902.2:c.4397T>G	NP_001341831.1:p.Ile1466Ser
NM_001354903.2:c.4367T>G	NP_001341832.1:p.Ile1456Ser
NM_001354904.2:c.4292T>G	NP_001341833.1:p.Ile1431Ser
NM_001354905.2:c.4190T>G	NP_001341834.1:p.Ile1397Ser
NM_001354906.2:c.3821T>G	NP_001341835.1:p.Ile1274Ser