Canonical Allele Identifier: CA16028088

Gene: APC

Linked Data

• ClinVar Variation Id: 2452706
• ClinVar RCV Id: RCV003177480
• dbSNP Id: rs2149884009
• MyVariant Identifiers: chr5:g.112174376C>A (hg19) ; chr5:g.112838679C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112838679C>A , CM000667.2:g.112838679C>A	GRCh38
NC_000005.9:g.112174376C>A , CM000667.1:g.112174376C>A	GRCh37
NC_000005.8:g.112202275C>A	NCBI36
NG_008481.4:g.151159C>A , LRG_130:g.151159C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502371.3:c.2750C>A	ENSP00000484935.2:n.2750C>A
ENST00000504915.3:c.3139C>A	ENSP00000473355.2:p.Leu1047Ile
ENST00000505350.2:c.*3091C>A	ENSP00000481752.1:n.*3091C>A
ENST00000507379.6:c.3031C>A	ENSP00000423224.2:p.Leu1011Ile
ENST00000509732.6:c.3085C>A	ENSP00000426541.2:p.Leu1029Ile
ENST00000512211.7:c.3085C>A	ENSP00000423828.3:p.Leu1029Ile
ENST00000257430.9:c.3085C>A MANE Select	ENSP00000257430.4:p.Leu1029Ile
ENST00000257430.8:c.3085C>A	ENSP00000257430.4:p.Leu1029Ile
ENST00000502371.2:c.1438C>A
ENST00000507379.5:c.3031C>A	ENSP00000423224.1:p.Leu1011Ile
ENST00000508376.6:c.3085C>A	ENSP00000427089.2:p.Leu1029Ile
ENST00000508624.5:c.*2407C>A	ENSP00000424265.1:n.*2407C>A
ENST00000512211.6:c.3085C>A	ENSP00000423828.2:p.Leu1029Ile
ENST00000520401.1:c.230+9707C>A
NM_000038.5:c.3085C>A	NP_000029.2:p.Leu1029Ile
NM_001127510.2:c.3085C>A	NP_001120982.1:p.Leu1029Ile
NM_001127511.2:c.3031C>A	NP_001120983.2:p.Leu1011Ile
NM_001354895.1:c.3085C>A	NP_001341824.1:p.Leu1029Ile
NM_001354896.1:c.3139C>A	NP_001341825.1:p.Leu1047Ile
NM_001354897.1:c.3115C>A	NP_001341826.1:p.Leu1039Ile
NM_001354898.1:c.3010C>A	NP_001341827.1:p.Leu1004Ile
NM_001354899.1:c.3001C>A	NP_001341828.1:p.Leu1001Ile
NM_001354900.1:c.2962C>A	NP_001341829.1:p.Leu988Ile
NM_001354901.1:c.2908C>A	NP_001341830.1:p.Leu970Ile
NM_001354902.1:c.2812C>A	NP_001341831.1:p.Leu938Ile
NM_001354903.1:c.2782C>A	NP_001341832.1:p.Leu928Ile
NM_001354904.1:c.2707C>A	NP_001341833.1:p.Leu903Ile
NM_001354905.1:c.2605C>A	NP_001341834.1:p.Leu869Ile
NM_001354906.1:c.2236C>A	NP_001341835.1:p.Leu746Ile
NM_000038.6:c.3085C>A MANE Select	NP_000029.2:p.Leu1029Ile
NM_001127510.3:c.3085C>A	NP_001120982.1:p.Leu1029Ile
NM_001127511.3:c.3031C>A	NP_001120983.2:p.Leu1011Ile
NM_001354895.2:c.3085C>A	NP_001341824.1:p.Leu1029Ile
NM_001354896.2:c.3139C>A	NP_001341825.1:p.Leu1047Ile
NM_001354897.2:c.3115C>A	NP_001341826.1:p.Leu1039Ile
NM_001354898.2:c.3010C>A	NP_001341827.1:p.Leu1004Ile
NM_001354899.2:c.3001C>A	NP_001341828.1:p.Leu1001Ile
NM_001354900.2:c.2962C>A	NP_001341829.1:p.Leu988Ile
NM_001354901.2:c.2908C>A	NP_001341830.1:p.Leu970Ile
NM_001354902.2:c.2812C>A	NP_001341831.1:p.Leu938Ile
NM_001354903.2:c.2782C>A	NP_001341832.1:p.Leu928Ile
NM_001354904.2:c.2707C>A	NP_001341833.1:p.Leu903Ile
NM_001354905.2:c.2605C>A	NP_001341834.1:p.Leu869Ile
NM_001354906.2:c.2236C>A	NP_001341835.1:p.Leu746Ile