Canonical Allele Identifier: CA045904

Gene: APC

Linked Data

• ClinVar Variation Id: 489485
• ClinVar RCV Id: RCV000580325 ; RCV001584395 ; RCV002476261 ; RCV003537234
• dbSNP Id: rs773539706
• ExAC: 5:112178018 A / G
• gnomAD v2: 5-112178018-A-G
• gnomAD v4: 5-112842321-A-G
• MyVariant Identifiers: chr5:g.112178018A>G (hg19) ; chr5:g.112842321A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112842321A>G , CM000667.2:g.112842321A>G	GRCh38
NC_000005.9:g.112178018A>G , CM000667.1:g.112178018A>G	GRCh37
NC_000005.8:g.112205917A>G	NCBI36
NG_008481.4:g.154801A>G , LRG_130:g.154801A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.6781A>G	ENSP00000473355.2:p.Thr2261Ala
ENST00000505350.2:c.*6733A>G	ENSP00000481752.1:n.*6733A>G
ENST00000507379.6:c.6673A>G	ENSP00000423224.2:p.Thr2225Ala
ENST00000509732.6:c.6727A>G	ENSP00000426541.2:p.Thr2243Ala
ENST00000512211.7:c.6727A>G	ENSP00000423828.3:p.Thr2243Ala
ENST00000257430.9:c.6727A>G MANE Select	ENSP00000257430.4:p.Thr2243Ala
ENST00000257430.8:c.6727A>G	ENSP00000257430.4:p.Thr2243Ala
ENST00000508376.6:c.6727A>G	ENSP00000427089.2:p.Thr2243Ala
ENST00000508624.5:c.*6049A>G	ENSP00000424265.1:n.*6049A>G
ENST00000520401.1:c.230+13349A>G
NM_000038.5:c.6727A>G	NP_000029.2:p.Thr2243Ala
NM_001127510.2:c.6727A>G	NP_001120982.1:p.Thr2243Ala
NM_001127511.2:c.6673A>G	NP_001120983.2:p.Thr2225Ala
NM_001354895.1:c.6727A>G	NP_001341824.1:p.Thr2243Ala
NM_001354896.1:c.6781A>G	NP_001341825.1:p.Thr2261Ala
NM_001354897.1:c.6757A>G	NP_001341826.1:p.Thr2253Ala
NM_001354898.1:c.6652A>G	NP_001341827.1:p.Thr2218Ala
NM_001354899.1:c.6643A>G	NP_001341828.1:p.Thr2215Ala
NM_001354900.1:c.6604A>G	NP_001341829.1:p.Thr2202Ala
NM_001354901.1:c.6550A>G	NP_001341830.1:p.Thr2184Ala
NM_001354902.1:c.6454A>G	NP_001341831.1:p.Thr2152Ala
NM_001354903.1:c.6424A>G	NP_001341832.1:p.Thr2142Ala
NM_001354904.1:c.6349A>G	NP_001341833.1:p.Thr2117Ala
NM_001354905.1:c.6247A>G	NP_001341834.1:p.Thr2083Ala
NM_001354906.1:c.5878A>G	NP_001341835.1:p.Thr1960Ala
NM_000038.6:c.6727A>G MANE Select	NP_000029.2:p.Thr2243Ala
NM_001127510.3:c.6727A>G	NP_001120982.1:p.Thr2243Ala
NM_001127511.3:c.6673A>G	NP_001120983.2:p.Thr2225Ala
NM_001354895.2:c.6727A>G	NP_001341824.1:p.Thr2243Ala
NM_001354896.2:c.6781A>G	NP_001341825.1:p.Thr2261Ala
NM_001354897.2:c.6757A>G	NP_001341826.1:p.Thr2253Ala
NM_001354898.2:c.6652A>G	NP_001341827.1:p.Thr2218Ala
NM_001354899.2:c.6643A>G	NP_001341828.1:p.Thr2215Ala
NM_001354900.2:c.6604A>G	NP_001341829.1:p.Thr2202Ala
NM_001354901.2:c.6550A>G	NP_001341830.1:p.Thr2184Ala
NM_001354902.2:c.6454A>G	NP_001341831.1:p.Thr2152Ala
NM_001354903.2:c.6424A>G	NP_001341832.1:p.Thr2142Ala
NM_001354904.2:c.6349A>G	NP_001341833.1:p.Thr2117Ala
NM_001354905.2:c.6247A>G	NP_001341834.1:p.Thr2083Ala
NM_001354906.2:c.5878A>G	NP_001341835.1:p.Thr1960Ala