Canonical Allele Identifier: CA16036782

Gene: APC

Linked Data

• dbSNP Id: rs1580678353
• MyVariant Identifiers: chr5:g.112178384T>G (hg19) ; chr5:g.112842687T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112842687T>G , CM000667.2:g.112842687T>G	GRCh38
NC_000005.9:g.112178384T>G , CM000667.1:g.112178384T>G	GRCh37
NC_000005.8:g.112206283T>G	NCBI36
NG_008481.4:g.155167T>G , LRG_130:g.155167T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.7147T>G	ENSP00000473355.2:p.Ser2383Ala
ENST00000505350.2:c.*7099T>G	ENSP00000481752.1:n.*7099T>G
ENST00000507379.6:c.7039T>G	ENSP00000423224.2:p.Ser2347Ala
ENST00000509732.6:c.7093T>G	ENSP00000426541.2:p.Ser2365Ala
ENST00000512211.7:c.7093T>G	ENSP00000423828.3:p.Ser2365Ala
ENST00000257430.9:c.7093T>G MANE Select	ENSP00000257430.4:p.Ser2365Ala
ENST00000257430.8:c.7093T>G	ENSP00000257430.4:p.Ser2365Ala
ENST00000508376.6:c.7093T>G	ENSP00000427089.2:p.Ser2365Ala
ENST00000508624.5:c.*6415T>G	ENSP00000424265.1:n.*6415T>G
ENST00000520401.1:c.230+13715T>G
NM_000038.5:c.7093T>G	NP_000029.2:p.Ser2365Ala
NM_001127510.2:c.7093T>G	NP_001120982.1:p.Ser2365Ala
NM_001127511.2:c.7039T>G	NP_001120983.2:p.Ser2347Ala
NM_001354895.1:c.7093T>G	NP_001341824.1:p.Ser2365Ala
NM_001354896.1:c.7147T>G	NP_001341825.1:p.Ser2383Ala
NM_001354897.1:c.7123T>G	NP_001341826.1:p.Ser2375Ala
NM_001354898.1:c.7018T>G	NP_001341827.1:p.Ser2340Ala
NM_001354899.1:c.7009T>G	NP_001341828.1:p.Ser2337Ala
NM_001354900.1:c.6970T>G	NP_001341829.1:p.Ser2324Ala
NM_001354901.1:c.6916T>G	NP_001341830.1:p.Ser2306Ala
NM_001354902.1:c.6820T>G	NP_001341831.1:p.Ser2274Ala
NM_001354903.1:c.6790T>G	NP_001341832.1:p.Ser2264Ala
NM_001354904.1:c.6715T>G	NP_001341833.1:p.Ser2239Ala
NM_001354905.1:c.6613T>G	NP_001341834.1:p.Ser2205Ala
NM_001354906.1:c.6244T>G	NP_001341835.1:p.Ser2082Ala
NM_000038.6:c.7093T>G MANE Select	NP_000029.2:p.Ser2365Ala
NM_001127510.3:c.7093T>G	NP_001120982.1:p.Ser2365Ala
NM_001127511.3:c.7039T>G	NP_001120983.2:p.Ser2347Ala
NM_001354895.2:c.7093T>G	NP_001341824.1:p.Ser2365Ala
NM_001354896.2:c.7147T>G	NP_001341825.1:p.Ser2383Ala
NM_001354897.2:c.7123T>G	NP_001341826.1:p.Ser2375Ala
NM_001354898.2:c.7018T>G	NP_001341827.1:p.Ser2340Ala
NM_001354899.2:c.7009T>G	NP_001341828.1:p.Ser2337Ala
NM_001354900.2:c.6970T>G	NP_001341829.1:p.Ser2324Ala
NM_001354901.2:c.6916T>G	NP_001341830.1:p.Ser2306Ala
NM_001354902.2:c.6820T>G	NP_001341831.1:p.Ser2274Ala
NM_001354903.2:c.6790T>G	NP_001341832.1:p.Ser2264Ala
NM_001354904.2:c.6715T>G	NP_001341833.1:p.Ser2239Ala
NM_001354905.2:c.6613T>G	NP_001341834.1:p.Ser2205Ala
NM_001354906.2:c.6244T>G	NP_001341835.1:p.Ser2082Ala