Canonical Allele Identifier: CA16034414

Gene: APC

Linked Data

• ClinVar Variation Id: 826087
• ClinVar RCV Id: RCV001024737 ; RCV003537419
• dbSNP Id: rs1580666303
• gnomAD v4: 5-112841569-C-T
• MyVariant Identifiers: chr5:g.112177266C>T (hg19) ; chr5:g.112841569C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112841569C>T , CM000667.2:g.112841569C>T	GRCh38
NC_000005.9:g.112177266C>T , CM000667.1:g.112177266C>T	GRCh37
NC_000005.8:g.112205165C>T	NCBI36
NG_008481.4:g.154049C>T , LRG_130:g.154049C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.6029C>T	ENSP00000473355.2:p.Pro2010Leu
ENST00000505350.2:c.*5981C>T	ENSP00000481752.1:n.*5981C>T
ENST00000507379.6:c.5921C>T	ENSP00000423224.2:p.Pro1974Leu
ENST00000509732.6:c.5975C>T	ENSP00000426541.2:p.Pro1992Leu
ENST00000512211.7:c.5975C>T	ENSP00000423828.3:p.Pro1992Leu
ENST00000257430.9:c.5975C>T MANE Select	ENSP00000257430.4:p.Pro1992Leu
ENST00000257430.8:c.5975C>T	ENSP00000257430.4:p.Pro1992Leu
ENST00000508376.6:c.5975C>T	ENSP00000427089.2:p.Pro1992Leu
ENST00000508624.5:c.*5297C>T	ENSP00000424265.1:n.*5297C>T
ENST00000520401.1:c.230+12597C>T
NM_000038.5:c.5975C>T	NP_000029.2:p.Pro1992Leu
NM_001127510.2:c.5975C>T	NP_001120982.1:p.Pro1992Leu
NM_001127511.2:c.5921C>T	NP_001120983.2:p.Pro1974Leu
NM_001354895.1:c.5975C>T	NP_001341824.1:p.Pro1992Leu
NM_001354896.1:c.6029C>T	NP_001341825.1:p.Pro2010Leu
NM_001354897.1:c.6005C>T	NP_001341826.1:p.Pro2002Leu
NM_001354898.1:c.5900C>T	NP_001341827.1:p.Pro1967Leu
NM_001354899.1:c.5891C>T	NP_001341828.1:p.Pro1964Leu
NM_001354900.1:c.5852C>T	NP_001341829.1:p.Pro1951Leu
NM_001354901.1:c.5798C>T	NP_001341830.1:p.Pro1933Leu
NM_001354902.1:c.5702C>T	NP_001341831.1:p.Pro1901Leu
NM_001354903.1:c.5672C>T	NP_001341832.1:p.Pro1891Leu
NM_001354904.1:c.5597C>T	NP_001341833.1:p.Pro1866Leu
NM_001354905.1:c.5495C>T	NP_001341834.1:p.Pro1832Leu
NM_001354906.1:c.5126C>T	NP_001341835.1:p.Pro1709Leu
NM_000038.6:c.5975C>T MANE Select	NP_000029.2:p.Pro1992Leu
NM_001127510.3:c.5975C>T	NP_001120982.1:p.Pro1992Leu
NM_001127511.3:c.5921C>T	NP_001120983.2:p.Pro1974Leu
NM_001354895.2:c.5975C>T	NP_001341824.1:p.Pro1992Leu
NM_001354896.2:c.6029C>T	NP_001341825.1:p.Pro2010Leu
NM_001354897.2:c.6005C>T	NP_001341826.1:p.Pro2002Leu
NM_001354898.2:c.5900C>T	NP_001341827.1:p.Pro1967Leu
NM_001354899.2:c.5891C>T	NP_001341828.1:p.Pro1964Leu
NM_001354900.2:c.5852C>T	NP_001341829.1:p.Pro1951Leu
NM_001354901.2:c.5798C>T	NP_001341830.1:p.Pro1933Leu
NM_001354902.2:c.5702C>T	NP_001341831.1:p.Pro1901Leu
NM_001354903.2:c.5672C>T	NP_001341832.1:p.Pro1891Leu
NM_001354904.2:c.5597C>T	NP_001341833.1:p.Pro1866Leu
NM_001354905.2:c.5495C>T	NP_001341834.1:p.Pro1832Leu
NM_001354906.2:c.5126C>T	NP_001341835.1:p.Pro1709Leu