Canonical Allele Identifier: CA16037513

Gene: APC

Linked Data

• dbSNP Id: rs2149987002
• MyVariant Identifiers: chr5:g.112178727C>A (hg19) ; chr5:g.112843030C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112843030C>A , CM000667.2:g.112843030C>A	GRCh38
NC_000005.9:g.112178727C>A , CM000667.1:g.112178727C>A	GRCh37
NC_000005.8:g.112206626C>A	NCBI36
NG_008481.4:g.155510C>A , LRG_130:g.155510C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.7490C>A	ENSP00000473355.2:p.Ala2497Glu
ENST00000505350.2:c.*7442C>A	ENSP00000481752.1:n.*7442C>A
ENST00000507379.6:c.7382C>A	ENSP00000423224.2:p.Ala2461Glu
ENST00000509732.6:c.7436C>A	ENSP00000426541.2:p.Ala2479Glu
ENST00000512211.7:c.7436C>A	ENSP00000423828.3:p.Ala2479Glu
ENST00000257430.9:c.7436C>A MANE Select	ENSP00000257430.4:p.Ala2479Glu
ENST00000257430.8:c.7436C>A	ENSP00000257430.4:p.Ala2479Glu
ENST00000508376.6:c.7436C>A	ENSP00000427089.2:p.Ala2479Glu
ENST00000520401.1:c.231-13619C>A
NM_000038.5:c.7436C>A	NP_000029.2:p.Ala2479Glu
NM_001127510.2:c.7436C>A	NP_001120982.1:p.Ala2479Glu
NM_001127511.2:c.7382C>A	NP_001120983.2:p.Ala2461Glu
NM_001354895.1:c.7436C>A	NP_001341824.1:p.Ala2479Glu
NM_001354896.1:c.7490C>A	NP_001341825.1:p.Ala2497Glu
NM_001354897.1:c.7466C>A	NP_001341826.1:p.Ala2489Glu
NM_001354898.1:c.7361C>A	NP_001341827.1:p.Ala2454Glu
NM_001354899.1:c.7352C>A	NP_001341828.1:p.Ala2451Glu
NM_001354900.1:c.7313C>A	NP_001341829.1:p.Ala2438Glu
NM_001354901.1:c.7259C>A	NP_001341830.1:p.Ala2420Glu
NM_001354902.1:c.7163C>A	NP_001341831.1:p.Ala2388Glu
NM_001354903.1:c.7133C>A	NP_001341832.1:p.Ala2378Glu
NM_001354904.1:c.7058C>A	NP_001341833.1:p.Ala2353Glu
NM_001354905.1:c.6956C>A	NP_001341834.1:p.Ala2319Glu
NM_001354906.1:c.6587C>A	NP_001341835.1:p.Ala2196Glu
NM_000038.6:c.7436C>A MANE Select	NP_000029.2:p.Ala2479Glu
NM_001127510.3:c.7436C>A	NP_001120982.1:p.Ala2479Glu
NM_001127511.3:c.7382C>A	NP_001120983.2:p.Ala2461Glu
NM_001354895.2:c.7436C>A	NP_001341824.1:p.Ala2479Glu
NM_001354896.2:c.7490C>A	NP_001341825.1:p.Ala2497Glu
NM_001354897.2:c.7466C>A	NP_001341826.1:p.Ala2489Glu
NM_001354898.2:c.7361C>A	NP_001341827.1:p.Ala2454Glu
NM_001354899.2:c.7352C>A	NP_001341828.1:p.Ala2451Glu
NM_001354900.2:c.7313C>A	NP_001341829.1:p.Ala2438Glu
NM_001354901.2:c.7259C>A	NP_001341830.1:p.Ala2420Glu
NM_001354902.2:c.7163C>A	NP_001341831.1:p.Ala2388Glu
NM_001354903.2:c.7133C>A	NP_001341832.1:p.Ala2378Glu
NM_001354904.2:c.7058C>A	NP_001341833.1:p.Ala2353Glu
NM_001354905.2:c.6956C>A	NP_001341834.1:p.Ala2319Glu
NM_001354906.2:c.6587C>A	NP_001341835.1:p.Ala2196Glu