Canonical Allele Identifier: CA16038257

Gene: APC

Linked Data

• ClinVar Variation Id: 1039177
• ClinVar RCV Id: RCV003770925 ; RCV004036000
• dbSNP Id: rs747339588
• MyVariant Identifiers: chr5:g.112179084C>G (hg19) ; chr5:g.112843387C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112843387C>G , CM000667.2:g.112843387C>G	GRCh38
NC_000005.9:g.112179084C>G , CM000667.1:g.112179084C>G	GRCh37
NC_000005.8:g.112206983C>G	NCBI36
NG_008481.4:g.155867C>G , LRG_130:g.155867C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.7847C>G	ENSP00000473355.2:p.Thr2616Ser
ENST00000505350.2:c.*7799C>G	ENSP00000481752.1:n.*7799C>G
ENST00000507379.6:c.7739C>G	ENSP00000423224.2:p.Thr2580Ser
ENST00000509732.6:c.7793C>G	ENSP00000426541.2:p.Thr2598Ser
ENST00000512211.7:c.7793C>G	ENSP00000423828.3:p.Thr2598Ser
ENST00000257430.9:c.7793C>G MANE Select	ENSP00000257430.4:p.Thr2598Ser
ENST00000257430.8:c.7793C>G	ENSP00000257430.4:p.Thr2598Ser
ENST00000508376.6:c.7793C>G	ENSP00000427089.2:p.Thr2598Ser
ENST00000520401.1:c.231-13262C>G
NM_000038.5:c.7793C>G	NP_000029.2:p.Thr2598Ser
NM_001127510.2:c.7793C>G	NP_001120982.1:p.Thr2598Ser
NM_001127511.2:c.7739C>G	NP_001120983.2:p.Thr2580Ser
NM_001354895.1:c.7793C>G	NP_001341824.1:p.Thr2598Ser
NM_001354896.1:c.7847C>G	NP_001341825.1:p.Thr2616Ser
NM_001354897.1:c.7823C>G	NP_001341826.1:p.Thr2608Ser
NM_001354898.1:c.7718C>G	NP_001341827.1:p.Thr2573Ser
NM_001354899.1:c.7709C>G	NP_001341828.1:p.Thr2570Ser
NM_001354900.1:c.7670C>G	NP_001341829.1:p.Thr2557Ser
NM_001354901.1:c.7616C>G	NP_001341830.1:p.Thr2539Ser
NM_001354902.1:c.7520C>G	NP_001341831.1:p.Thr2507Ser
NM_001354903.1:c.7490C>G	NP_001341832.1:p.Thr2497Ser
NM_001354904.1:c.7415C>G	NP_001341833.1:p.Thr2472Ser
NM_001354905.1:c.7313C>G	NP_001341834.1:p.Thr2438Ser
NM_001354906.1:c.6944C>G	NP_001341835.1:p.Thr2315Ser
NM_000038.6:c.7793C>G MANE Select	NP_000029.2:p.Thr2598Ser
NM_001127510.3:c.7793C>G	NP_001120982.1:p.Thr2598Ser
NM_001127511.3:c.7739C>G	NP_001120983.2:p.Thr2580Ser
NM_001354895.2:c.7793C>G	NP_001341824.1:p.Thr2598Ser
NM_001354896.2:c.7847C>G	NP_001341825.1:p.Thr2616Ser
NM_001354897.2:c.7823C>G	NP_001341826.1:p.Thr2608Ser
NM_001354898.2:c.7718C>G	NP_001341827.1:p.Thr2573Ser
NM_001354899.2:c.7709C>G	NP_001341828.1:p.Thr2570Ser
NM_001354900.2:c.7670C>G	NP_001341829.1:p.Thr2557Ser
NM_001354901.2:c.7616C>G	NP_001341830.1:p.Thr2539Ser
NM_001354902.2:c.7520C>G	NP_001341831.1:p.Thr2507Ser
NM_001354903.2:c.7490C>G	NP_001341832.1:p.Thr2497Ser
NM_001354904.2:c.7415C>G	NP_001341833.1:p.Thr2472Ser
NM_001354905.2:c.7313C>G	NP_001341834.1:p.Thr2438Ser
NM_001354906.2:c.6944C>G	NP_001341835.1:p.Thr2315Ser