Canonical Allele Identifier: CA16028037

Gene: APC

Linked Data

• ClinVar Variation Id: 2562359
• ClinVar RCV Id: RCV003310419
• dbSNP Id: rs1765327994
• MyVariant Identifiers: chr5:g.112174352C>A (hg19) ; chr5:g.112838655C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112838655C>A , CM000667.2:g.112838655C>A	GRCh38
NC_000005.9:g.112174352C>A , CM000667.1:g.112174352C>A	GRCh37
NC_000005.8:g.112202251C>A	NCBI36
NG_008481.4:g.151135C>A , LRG_130:g.151135C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502371.3:c.2726C>A	ENSP00000484935.2:n.2726C>A
ENST00000504915.3:c.3115C>A	ENSP00000473355.2:p.Leu1039Ile
ENST00000505350.2:c.*3067C>A	ENSP00000481752.1:n.*3067C>A
ENST00000507379.6:c.3007C>A	ENSP00000423224.2:p.Leu1003Ile
ENST00000509732.6:c.3061C>A	ENSP00000426541.2:p.Leu1021Ile
ENST00000512211.7:c.3061C>A	ENSP00000423828.3:p.Leu1021Ile
ENST00000257430.9:c.3061C>A MANE Select	ENSP00000257430.4:p.Leu1021Ile
ENST00000257430.8:c.3061C>A	ENSP00000257430.4:p.Leu1021Ile
ENST00000502371.2:c.1414C>A
ENST00000507379.5:c.3007C>A	ENSP00000423224.1:p.Leu1003Ile
ENST00000508376.6:c.3061C>A	ENSP00000427089.2:p.Leu1021Ile
ENST00000508624.5:c.*2383C>A	ENSP00000424265.1:n.*2383C>A
ENST00000512211.6:c.3061C>A	ENSP00000423828.2:p.Leu1021Ile
ENST00000520401.1:c.230+9683C>A
NM_000038.5:c.3061C>A	NP_000029.2:p.Leu1021Ile
NM_001127510.2:c.3061C>A	NP_001120982.1:p.Leu1021Ile
NM_001127511.2:c.3007C>A	NP_001120983.2:p.Leu1003Ile
NM_001354895.1:c.3061C>A	NP_001341824.1:p.Leu1021Ile
NM_001354896.1:c.3115C>A	NP_001341825.1:p.Leu1039Ile
NM_001354897.1:c.3091C>A	NP_001341826.1:p.Leu1031Ile
NM_001354898.1:c.2986C>A	NP_001341827.1:p.Leu996Ile
NM_001354899.1:c.2977C>A	NP_001341828.1:p.Leu993Ile
NM_001354900.1:c.2938C>A	NP_001341829.1:p.Leu980Ile
NM_001354901.1:c.2884C>A	NP_001341830.1:p.Leu962Ile
NM_001354902.1:c.2788C>A	NP_001341831.1:p.Leu930Ile
NM_001354903.1:c.2758C>A	NP_001341832.1:p.Leu920Ile
NM_001354904.1:c.2683C>A	NP_001341833.1:p.Leu895Ile
NM_001354905.1:c.2581C>A	NP_001341834.1:p.Leu861Ile
NM_001354906.1:c.2212C>A	NP_001341835.1:p.Leu738Ile
NM_000038.6:c.3061C>A MANE Select	NP_000029.2:p.Leu1021Ile
NM_001127510.3:c.3061C>A	NP_001120982.1:p.Leu1021Ile
NM_001127511.3:c.3007C>A	NP_001120983.2:p.Leu1003Ile
NM_001354895.2:c.3061C>A	NP_001341824.1:p.Leu1021Ile
NM_001354896.2:c.3115C>A	NP_001341825.1:p.Leu1039Ile
NM_001354897.2:c.3091C>A	NP_001341826.1:p.Leu1031Ile
NM_001354898.2:c.2986C>A	NP_001341827.1:p.Leu996Ile
NM_001354899.2:c.2977C>A	NP_001341828.1:p.Leu993Ile
NM_001354900.2:c.2938C>A	NP_001341829.1:p.Leu980Ile
NM_001354901.2:c.2884C>A	NP_001341830.1:p.Leu962Ile
NM_001354902.2:c.2788C>A	NP_001341831.1:p.Leu930Ile
NM_001354903.2:c.2758C>A	NP_001341832.1:p.Leu920Ile
NM_001354904.2:c.2683C>A	NP_001341833.1:p.Leu895Ile
NM_001354905.2:c.2581C>A	NP_001341834.1:p.Leu861Ile
NM_001354906.2:c.2212C>A	NP_001341835.1:p.Leu738Ile