Canonical Allele Identifier: CA16025574

Gene: APC

Linked Data

• dbSNP Id: rs2149844401
• MyVariant Identifiers: chr5:g.112170852G>T (hg19) ; chr5:g.112835155G>T (hg38)
• PubMed: PMID:20223039 ; PMID:20685668

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112835155G>T , CM000667.2:g.112835155G>T	GRCh38
NC_000005.9:g.112170852G>T , CM000667.1:g.112170852G>T	GRCh37
NC_000005.8:g.112198751G>T	NCBI36
NG_008481.4:g.147635G>T , LRG_130:g.147635G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502371.3:c.1613G>T	ENSP00000484935.2:n.1613G>T
ENST00000504915.3:c.2002G>T	ENSP00000473355.2:p.Glu668Ter
ENST00000505350.2:c.*1954G>T	ENSP00000481752.1:n.*1954G>T
ENST00000507379.6:c.1894G>T	ENSP00000423224.2:p.Glu632Ter
ENST00000509732.6:c.1948G>T	ENSP00000426541.2:p.Glu650Ter
ENST00000512211.7:c.1948G>T	ENSP00000423828.3:p.Glu650Ter
ENST00000257430.9:c.1948G>T MANE Select	ENSP00000257430.4:p.Glu650Ter
ENST00000257430.8:c.1948G>T	ENSP00000257430.4:p.Glu650Ter
ENST00000502371.2:c.301G>T
ENST00000504915.2:c.637G>T	ENSP00000473355.1:p.Glu213Ter
ENST00000507379.5:c.1894G>T	ENSP00000423224.1:p.Glu632Ter
ENST00000508376.6:c.1948G>T	ENSP00000427089.2:p.Glu650Ter
ENST00000508624.5:c.*1270G>T	ENSP00000424265.1:n.*1270G>T
ENST00000512211.6:c.1948G>T	ENSP00000423828.2:p.Glu650Ter
ENST00000520401.1:c.230+6183G>T
NM_000038.5:c.1948G>T	NP_000029.2:p.Glu650Ter
NM_001127510.2:c.1948G>T	NP_001120982.1:p.Glu650Ter
NM_001127511.2:c.1894G>T	NP_001120983.2:p.Glu632Ter
NM_001354895.1:c.1948G>T	NP_001341824.1:p.Glu650Ter
NM_001354896.1:c.2002G>T	NP_001341825.1:p.Glu668Ter
NM_001354897.1:c.1978G>T	NP_001341826.1:p.Glu660Ter
NM_001354898.1:c.1873G>T	NP_001341827.1:p.Glu625Ter
NM_001354899.1:c.1864G>T	NP_001341828.1:p.Glu622Ter
NM_001354900.1:c.1825G>T	NP_001341829.1:p.Glu609Ter
NM_001354901.1:c.1771G>T	NP_001341830.1:p.Glu591Ter
NM_001354902.1:c.1675G>T	NP_001341831.1:p.Glu559Ter
NM_001354903.1:c.1645G>T	NP_001341832.1:p.Glu549Ter
NM_001354904.1:c.1570G>T	NP_001341833.1:p.Glu524Ter
NM_001354905.1:c.1468G>T	NP_001341834.1:p.Glu490Ter
NM_001354906.1:c.1099G>T	NP_001341835.1:p.Glu367Ter
NM_000038.6:c.1948G>T MANE Select	NP_000029.2:p.Glu650Ter
NM_001127510.3:c.1948G>T	NP_001120982.1:p.Glu650Ter
NM_001127511.3:c.1894G>T	NP_001120983.2:p.Glu632Ter
NM_001354895.2:c.1948G>T	NP_001341824.1:p.Glu650Ter
NM_001354896.2:c.2002G>T	NP_001341825.1:p.Glu668Ter
NM_001354897.2:c.1978G>T	NP_001341826.1:p.Glu660Ter
NM_001354898.2:c.1873G>T	NP_001341827.1:p.Glu625Ter
NM_001354899.2:c.1864G>T	NP_001341828.1:p.Glu622Ter
NM_001354900.2:c.1825G>T	NP_001341829.1:p.Glu609Ter
NM_001354901.2:c.1771G>T	NP_001341830.1:p.Glu591Ter
NM_001354902.2:c.1675G>T	NP_001341831.1:p.Glu559Ter
NM_001354903.2:c.1645G>T	NP_001341832.1:p.Glu549Ter
NM_001354904.2:c.1570G>T	NP_001341833.1:p.Glu524Ter
NM_001354905.2:c.1468G>T	NP_001341834.1:p.Glu490Ter
NM_001354906.2:c.1099G>T	NP_001341835.1:p.Glu367Ter