Canonical Allele Identifier: CA16032157

Gene: APC

Linked Data

• ClinVar Variation Id: 1446639
• ClinVar RCV Id: RCV003653542
• dbSNP Id: rs2149928044
• MyVariant Identifiers: chr5:g.112176234C>T (hg19) ; chr5:g.112840537C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112840537C>T , CM000667.2:g.112840537C>T	GRCh38
NC_000005.9:g.112176234C>T , CM000667.1:g.112176234C>T	GRCh37
NC_000005.8:g.112204133C>T	NCBI36
NG_008481.4:g.153017C>T , LRG_130:g.153017C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.4997C>T	ENSP00000473355.2:p.Pro1666Leu
ENST00000505350.2:c.*4949C>T	ENSP00000481752.1:n.*4949C>T
ENST00000507379.6:c.4889C>T	ENSP00000423224.2:p.Pro1630Leu
ENST00000509732.6:c.4943C>T	ENSP00000426541.2:p.Pro1648Leu
ENST00000512211.7:c.4943C>T	ENSP00000423828.3:p.Pro1648Leu
ENST00000257430.9:c.4943C>T MANE Select	ENSP00000257430.4:p.Pro1648Leu
ENST00000257430.8:c.4943C>T	ENSP00000257430.4:p.Pro1648Leu
ENST00000508376.6:c.4943C>T	ENSP00000427089.2:p.Pro1648Leu
ENST00000508624.5:c.*4265C>T	ENSP00000424265.1:n.*4265C>T
ENST00000520401.1:c.230+11565C>T
NM_000038.5:c.4943C>T	NP_000029.2:p.Pro1648Leu
NM_001127510.2:c.4943C>T	NP_001120982.1:p.Pro1648Leu
NM_001127511.2:c.4889C>T	NP_001120983.2:p.Pro1630Leu
NM_001354895.1:c.4943C>T	NP_001341824.1:p.Pro1648Leu
NM_001354896.1:c.4997C>T	NP_001341825.1:p.Pro1666Leu
NM_001354897.1:c.4973C>T	NP_001341826.1:p.Pro1658Leu
NM_001354898.1:c.4868C>T	NP_001341827.1:p.Pro1623Leu
NM_001354899.1:c.4859C>T	NP_001341828.1:p.Pro1620Leu
NM_001354900.1:c.4820C>T	NP_001341829.1:p.Pro1607Leu
NM_001354901.1:c.4766C>T	NP_001341830.1:p.Pro1589Leu
NM_001354902.1:c.4670C>T	NP_001341831.1:p.Pro1557Leu
NM_001354903.1:c.4640C>T	NP_001341832.1:p.Pro1547Leu
NM_001354904.1:c.4565C>T	NP_001341833.1:p.Pro1522Leu
NM_001354905.1:c.4463C>T	NP_001341834.1:p.Pro1488Leu
NM_001354906.1:c.4094C>T	NP_001341835.1:p.Pro1365Leu
NM_000038.6:c.4943C>T MANE Select	NP_000029.2:p.Pro1648Leu
NM_001127510.3:c.4943C>T	NP_001120982.1:p.Pro1648Leu
NM_001127511.3:c.4889C>T	NP_001120983.2:p.Pro1630Leu
NM_001354895.2:c.4943C>T	NP_001341824.1:p.Pro1648Leu
NM_001354896.2:c.4997C>T	NP_001341825.1:p.Pro1666Leu
NM_001354897.2:c.4973C>T	NP_001341826.1:p.Pro1658Leu
NM_001354898.2:c.4868C>T	NP_001341827.1:p.Pro1623Leu
NM_001354899.2:c.4859C>T	NP_001341828.1:p.Pro1620Leu
NM_001354900.2:c.4820C>T	NP_001341829.1:p.Pro1607Leu
NM_001354901.2:c.4766C>T	NP_001341830.1:p.Pro1589Leu
NM_001354902.2:c.4670C>T	NP_001341831.1:p.Pro1557Leu
NM_001354903.2:c.4640C>T	NP_001341832.1:p.Pro1547Leu
NM_001354904.2:c.4565C>T	NP_001341833.1:p.Pro1522Leu
NM_001354905.2:c.4463C>T	NP_001341834.1:p.Pro1488Leu
NM_001354906.2:c.4094C>T	NP_001341835.1:p.Pro1365Leu