Canonical Allele Identifier: CA16037292

Gene: APC

Linked Data

• ClinVar Variation Id: 918419
• ClinVar RCV Id: RCV001175992
• dbSNP Id: rs1766449959
• MyVariant Identifiers: chr5:g.112178621A>C (hg19) ; chr5:g.112842924A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112842924A>C , CM000667.2:g.112842924A>C	GRCh38
NC_000005.9:g.112178621A>C , CM000667.1:g.112178621A>C	GRCh37
NC_000005.8:g.112206520A>C	NCBI36
NG_008481.4:g.155404A>C , LRG_130:g.155404A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.7384A>C	ENSP00000473355.2:p.Ile2462Leu
ENST00000505350.2:c.*7336A>C	ENSP00000481752.1:n.*7336A>C
ENST00000507379.6:c.7276A>C	ENSP00000423224.2:p.Ile2426Leu
ENST00000509732.6:c.7330A>C	ENSP00000426541.2:p.Ile2444Leu
ENST00000512211.7:c.7330A>C	ENSP00000423828.3:p.Ile2444Leu
ENST00000257430.9:c.7330A>C MANE Select	ENSP00000257430.4:p.Ile2444Leu
ENST00000257430.8:c.7330A>C	ENSP00000257430.4:p.Ile2444Leu
ENST00000508376.6:c.7330A>C	ENSP00000427089.2:p.Ile2444Leu
ENST00000520401.1:c.231-13725A>C
NM_000038.5:c.7330A>C	NP_000029.2:p.Ile2444Leu
NM_001127510.2:c.7330A>C	NP_001120982.1:p.Ile2444Leu
NM_001127511.2:c.7276A>C	NP_001120983.2:p.Ile2426Leu
NM_001354895.1:c.7330A>C	NP_001341824.1:p.Ile2444Leu
NM_001354896.1:c.7384A>C	NP_001341825.1:p.Ile2462Leu
NM_001354897.1:c.7360A>C	NP_001341826.1:p.Ile2454Leu
NM_001354898.1:c.7255A>C	NP_001341827.1:p.Ile2419Leu
NM_001354899.1:c.7246A>C	NP_001341828.1:p.Ile2416Leu
NM_001354900.1:c.7207A>C	NP_001341829.1:p.Ile2403Leu
NM_001354901.1:c.7153A>C	NP_001341830.1:p.Ile2385Leu
NM_001354902.1:c.7057A>C	NP_001341831.1:p.Ile2353Leu
NM_001354903.1:c.7027A>C	NP_001341832.1:p.Ile2343Leu
NM_001354904.1:c.6952A>C	NP_001341833.1:p.Ile2318Leu
NM_001354905.1:c.6850A>C	NP_001341834.1:p.Ile2284Leu
NM_001354906.1:c.6481A>C	NP_001341835.1:p.Ile2161Leu
NM_000038.6:c.7330A>C MANE Select	NP_000029.2:p.Ile2444Leu
NM_001127510.3:c.7330A>C	NP_001120982.1:p.Ile2444Leu
NM_001127511.3:c.7276A>C	NP_001120983.2:p.Ile2426Leu
NM_001354895.2:c.7330A>C	NP_001341824.1:p.Ile2444Leu
NM_001354896.2:c.7384A>C	NP_001341825.1:p.Ile2462Leu
NM_001354897.2:c.7360A>C	NP_001341826.1:p.Ile2454Leu
NM_001354898.2:c.7255A>C	NP_001341827.1:p.Ile2419Leu
NM_001354899.2:c.7246A>C	NP_001341828.1:p.Ile2416Leu
NM_001354900.2:c.7207A>C	NP_001341829.1:p.Ile2403Leu
NM_001354901.2:c.7153A>C	NP_001341830.1:p.Ile2385Leu
NM_001354902.2:c.7057A>C	NP_001341831.1:p.Ile2353Leu
NM_001354903.2:c.7027A>C	NP_001341832.1:p.Ile2343Leu
NM_001354904.2:c.6952A>C	NP_001341833.1:p.Ile2318Leu
NM_001354905.2:c.6850A>C	NP_001341834.1:p.Ile2284Leu
NM_001354906.2:c.6481A>C	NP_001341835.1:p.Ile2161Leu