Canonical Allele Identifier: CA16037635

Gene: APC

Linked Data

• dbSNP Id: rs2149988341
• MyVariant Identifiers: chr5:g.112178787T>G (hg19) ; chr5:g.112843090T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112843090T>G , CM000667.2:g.112843090T>G	GRCh38
NC_000005.9:g.112178787T>G , CM000667.1:g.112178787T>G	GRCh37
NC_000005.8:g.112206686T>G	NCBI36
NG_008481.4:g.155570T>G , LRG_130:g.155570T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.7550T>G	ENSP00000473355.2:p.Val2517Gly
ENST00000505350.2:c.*7502T>G	ENSP00000481752.1:n.*7502T>G
ENST00000507379.6:c.7442T>G	ENSP00000423224.2:p.Val2481Gly
ENST00000509732.6:c.7496T>G	ENSP00000426541.2:p.Val2499Gly
ENST00000512211.7:c.7496T>G	ENSP00000423828.3:p.Val2499Gly
ENST00000257430.9:c.7496T>G MANE Select	ENSP00000257430.4:p.Val2499Gly
ENST00000257430.8:c.7496T>G	ENSP00000257430.4:p.Val2499Gly
ENST00000508376.6:c.7496T>G	ENSP00000427089.2:p.Val2499Gly
ENST00000520401.1:c.231-13559T>G
NM_000038.5:c.7496T>G	NP_000029.2:p.Val2499Gly
NM_001127510.2:c.7496T>G	NP_001120982.1:p.Val2499Gly
NM_001127511.2:c.7442T>G	NP_001120983.2:p.Val2481Gly
NM_001354895.1:c.7496T>G	NP_001341824.1:p.Val2499Gly
NM_001354896.1:c.7550T>G	NP_001341825.1:p.Val2517Gly
NM_001354897.1:c.7526T>G	NP_001341826.1:p.Val2509Gly
NM_001354898.1:c.7421T>G	NP_001341827.1:p.Val2474Gly
NM_001354899.1:c.7412T>G	NP_001341828.1:p.Val2471Gly
NM_001354900.1:c.7373T>G	NP_001341829.1:p.Val2458Gly
NM_001354901.1:c.7319T>G	NP_001341830.1:p.Val2440Gly
NM_001354902.1:c.7223T>G	NP_001341831.1:p.Val2408Gly
NM_001354903.1:c.7193T>G	NP_001341832.1:p.Val2398Gly
NM_001354904.1:c.7118T>G	NP_001341833.1:p.Val2373Gly
NM_001354905.1:c.7016T>G	NP_001341834.1:p.Val2339Gly
NM_001354906.1:c.6647T>G	NP_001341835.1:p.Val2216Gly
NM_000038.6:c.7496T>G MANE Select	NP_000029.2:p.Val2499Gly
NM_001127510.3:c.7496T>G	NP_001120982.1:p.Val2499Gly
NM_001127511.3:c.7442T>G	NP_001120983.2:p.Val2481Gly
NM_001354895.2:c.7496T>G	NP_001341824.1:p.Val2499Gly
NM_001354896.2:c.7550T>G	NP_001341825.1:p.Val2517Gly
NM_001354897.2:c.7526T>G	NP_001341826.1:p.Val2509Gly
NM_001354898.2:c.7421T>G	NP_001341827.1:p.Val2474Gly
NM_001354899.2:c.7412T>G	NP_001341828.1:p.Val2471Gly
NM_001354900.2:c.7373T>G	NP_001341829.1:p.Val2458Gly
NM_001354901.2:c.7319T>G	NP_001341830.1:p.Val2440Gly
NM_001354902.2:c.7223T>G	NP_001341831.1:p.Val2408Gly
NM_001354903.2:c.7193T>G	NP_001341832.1:p.Val2398Gly
NM_001354904.2:c.7118T>G	NP_001341833.1:p.Val2373Gly
NM_001354905.2:c.7016T>G	NP_001341834.1:p.Val2339Gly
NM_001354906.2:c.6647T>G	NP_001341835.1:p.Val2216Gly