Canonical Allele Identifier: CA012867

Gene: APC

Linked Data

• ClinVar Variation Id: 187494
• ClinVar RCV Id: RCV000167228 ; RCV003650438
• dbSNP Id: rs786203777
• MyVariant Identifiers: chr5:g.112178421A>G (hg19) ; chr5:g.112842724A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112842724A>G , CM000667.2:g.112842724A>G	GRCh38
NC_000005.9:g.112178421A>G , CM000667.1:g.112178421A>G	GRCh37
NC_000005.8:g.112206320A>G	NCBI36
NG_008481.4:g.155204A>G , LRG_130:g.155204A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.7184A>G	ENSP00000473355.2:p.Asn2395Ser
ENST00000505350.2:c.*7136A>G	ENSP00000481752.1:n.*7136A>G
ENST00000507379.6:c.7076A>G	ENSP00000423224.2:p.Asn2359Ser
ENST00000509732.6:c.7130A>G	ENSP00000426541.2:p.Asn2377Ser
ENST00000512211.7:c.7130A>G	ENSP00000423828.3:p.Asn2377Ser
ENST00000257430.9:c.7130A>G MANE Select	ENSP00000257430.4:p.Asn2377Ser
ENST00000257430.8:c.7130A>G	ENSP00000257430.4:p.Asn2377Ser
ENST00000508376.6:c.7130A>G	ENSP00000427089.2:p.Asn2377Ser
ENST00000508624.5:c.*6452A>G	ENSP00000424265.1:n.*6452A>G
ENST00000520401.1:c.230+13752A>G
NM_000038.5:c.7130A>G	NP_000029.2:p.Asn2377Ser
NM_001127510.2:c.7130A>G	NP_001120982.1:p.Asn2377Ser
NM_001127511.2:c.7076A>G	NP_001120983.2:p.Asn2359Ser
NM_001354895.1:c.7130A>G	NP_001341824.1:p.Asn2377Ser
NM_001354896.1:c.7184A>G	NP_001341825.1:p.Asn2395Ser
NM_001354897.1:c.7160A>G	NP_001341826.1:p.Asn2387Ser
NM_001354898.1:c.7055A>G	NP_001341827.1:p.Asn2352Ser
NM_001354899.1:c.7046A>G	NP_001341828.1:p.Asn2349Ser
NM_001354900.1:c.7007A>G	NP_001341829.1:p.Asn2336Ser
NM_001354901.1:c.6953A>G	NP_001341830.1:p.Asn2318Ser
NM_001354902.1:c.6857A>G	NP_001341831.1:p.Asn2286Ser
NM_001354903.1:c.6827A>G	NP_001341832.1:p.Asn2276Ser
NM_001354904.1:c.6752A>G	NP_001341833.1:p.Asn2251Ser
NM_001354905.1:c.6650A>G	NP_001341834.1:p.Asn2217Ser
NM_001354906.1:c.6281A>G	NP_001341835.1:p.Asn2094Ser
NM_000038.6:c.7130A>G MANE Select	NP_000029.2:p.Asn2377Ser
NM_001127510.3:c.7130A>G	NP_001120982.1:p.Asn2377Ser
NM_001127511.3:c.7076A>G	NP_001120983.2:p.Asn2359Ser
NM_001354895.2:c.7130A>G	NP_001341824.1:p.Asn2377Ser
NM_001354896.2:c.7184A>G	NP_001341825.1:p.Asn2395Ser
NM_001354897.2:c.7160A>G	NP_001341826.1:p.Asn2387Ser
NM_001354898.2:c.7055A>G	NP_001341827.1:p.Asn2352Ser
NM_001354899.2:c.7046A>G	NP_001341828.1:p.Asn2349Ser
NM_001354900.2:c.7007A>G	NP_001341829.1:p.Asn2336Ser
NM_001354901.2:c.6953A>G	NP_001341830.1:p.Asn2318Ser
NM_001354902.2:c.6857A>G	NP_001341831.1:p.Asn2286Ser
NM_001354903.2:c.6827A>G	NP_001341832.1:p.Asn2276Ser
NM_001354904.2:c.6752A>G	NP_001341833.1:p.Asn2251Ser
NM_001354905.2:c.6650A>G	NP_001341834.1:p.Asn2217Ser
NM_001354906.2:c.6281A>G	NP_001341835.1:p.Asn2094Ser