Canonical Allele Identifier: CA046510

Gene: APC

Linked Data

• ClinVar Variation Id: 418792
• ClinVar RCV Id: RCV000563979 ; RCV000588074 ; RCV000686468
• dbSNP Id: rs747056590
• ExAC: 5:112178243 A / G
• gnomAD v2: 5-112178243-A-G
• gnomAD v4: 5-112842546-A-G
• MyVariant Identifiers: chr5:g.112178243A>G (hg19) ; chr5:g.112842546A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112842546A>G , CM000667.2:g.112842546A>G	GRCh38
NC_000005.9:g.112178243A>G , CM000667.1:g.112178243A>G	GRCh37
NC_000005.8:g.112206142A>G	NCBI36
NG_008481.4:g.155026A>G , LRG_130:g.155026A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000504915.3:c.7006A>G	ENSP00000473355.2:p.Ser2336Gly
ENST00000505350.2:c.*6958A>G	ENSP00000481752.1:n.*6958A>G
ENST00000507379.6:c.6898A>G	ENSP00000423224.2:p.Ser2300Gly
ENST00000509732.6:c.6952A>G	ENSP00000426541.2:p.Ser2318Gly
ENST00000512211.7:c.6952A>G	ENSP00000423828.3:p.Ser2318Gly
ENST00000257430.9:c.6952A>G MANE Select	ENSP00000257430.4:p.Ser2318Gly
ENST00000257430.8:c.6952A>G	ENSP00000257430.4:p.Ser2318Gly
ENST00000508376.6:c.6952A>G	ENSP00000427089.2:p.Ser2318Gly
ENST00000508624.5:c.*6274A>G	ENSP00000424265.1:n.*6274A>G
ENST00000520401.1:c.230+13574A>G
NM_000038.5:c.6952A>G	NP_000029.2:p.Ser2318Gly
NM_001127510.2:c.6952A>G	NP_001120982.1:p.Ser2318Gly
NM_001127511.2:c.6898A>G	NP_001120983.2:p.Ser2300Gly
NM_001354895.1:c.6952A>G	NP_001341824.1:p.Ser2318Gly
NM_001354896.1:c.7006A>G	NP_001341825.1:p.Ser2336Gly
NM_001354897.1:c.6982A>G	NP_001341826.1:p.Ser2328Gly
NM_001354898.1:c.6877A>G	NP_001341827.1:p.Ser2293Gly
NM_001354899.1:c.6868A>G	NP_001341828.1:p.Ser2290Gly
NM_001354900.1:c.6829A>G	NP_001341829.1:p.Ser2277Gly
NM_001354901.1:c.6775A>G	NP_001341830.1:p.Ser2259Gly
NM_001354902.1:c.6679A>G	NP_001341831.1:p.Ser2227Gly
NM_001354903.1:c.6649A>G	NP_001341832.1:p.Ser2217Gly
NM_001354904.1:c.6574A>G	NP_001341833.1:p.Ser2192Gly
NM_001354905.1:c.6472A>G	NP_001341834.1:p.Ser2158Gly
NM_001354906.1:c.6103A>G	NP_001341835.1:p.Ser2035Gly
NM_000038.6:c.6952A>G MANE Select	NP_000029.2:p.Ser2318Gly
NM_001127510.3:c.6952A>G	NP_001120982.1:p.Ser2318Gly
NM_001127511.3:c.6898A>G	NP_001120983.2:p.Ser2300Gly
NM_001354895.2:c.6952A>G	NP_001341824.1:p.Ser2318Gly
NM_001354896.2:c.7006A>G	NP_001341825.1:p.Ser2336Gly
NM_001354897.2:c.6982A>G	NP_001341826.1:p.Ser2328Gly
NM_001354898.2:c.6877A>G	NP_001341827.1:p.Ser2293Gly
NM_001354899.2:c.6868A>G	NP_001341828.1:p.Ser2290Gly
NM_001354900.2:c.6829A>G	NP_001341829.1:p.Ser2277Gly
NM_001354901.2:c.6775A>G	NP_001341830.1:p.Ser2259Gly
NM_001354902.2:c.6679A>G	NP_001341831.1:p.Ser2227Gly
NM_001354903.2:c.6649A>G	NP_001341832.1:p.Ser2217Gly
NM_001354904.2:c.6574A>G	NP_001341833.1:p.Ser2192Gly
NM_001354905.2:c.6472A>G	NP_001341834.1:p.Ser2158Gly
NM_001354906.2:c.6103A>G	NP_001341835.1:p.Ser2035Gly