Canonical Allele Identifier: CA16025461

Gene: APC

Linked Data

• MyVariant Identifiers: chr5:g.112170798A>T (hg19) ; chr5:g.112835101A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112835101A>T , CM000667.2:g.112835101A>T	GRCh38
NC_000005.9:g.112170798A>T , CM000667.1:g.112170798A>T	GRCh37
NC_000005.8:g.112198697A>T	NCBI36
NG_008481.4:g.147581A>T , LRG_130:g.147581A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502371.3:c.1559A>T	ENSP00000484935.2:n.1559A>T
ENST00000504915.3:c.1948A>T	ENSP00000473355.2:p.Ile650Phe
ENST00000505350.2:c.*1900A>T	ENSP00000481752.1:n.*1900A>T
ENST00000507379.6:c.1840A>T	ENSP00000423224.2:p.Ile614Phe
ENST00000509732.6:c.1894A>T	ENSP00000426541.2:p.Ile632Phe
ENST00000512211.7:c.1894A>T	ENSP00000423828.3:p.Ile632Phe
ENST00000257430.9:c.1894A>T MANE Select	ENSP00000257430.4:p.Ile632Phe
ENST00000257430.8:c.1894A>T	ENSP00000257430.4:p.Ile632Phe
ENST00000502371.2:c.247A>T
ENST00000504915.2:c.583A>T	ENSP00000473355.1:p.Ile195Phe
ENST00000507379.5:c.1840A>T	ENSP00000423224.1:p.Ile614Phe
ENST00000508376.6:c.1894A>T	ENSP00000427089.2:p.Ile632Phe
ENST00000508624.5:c.*1216A>T	ENSP00000424265.1:n.*1216A>T
ENST00000512211.6:c.1894A>T	ENSP00000423828.2:p.Ile632Phe
ENST00000520401.1:c.230+6129A>T
NM_000038.5:c.1894A>T	NP_000029.2:p.Ile632Phe
NM_001127510.2:c.1894A>T	NP_001120982.1:p.Ile632Phe
NM_001127511.2:c.1840A>T	NP_001120983.2:p.Ile614Phe
NM_001354895.1:c.1894A>T	NP_001341824.1:p.Ile632Phe
NM_001354896.1:c.1948A>T	NP_001341825.1:p.Ile650Phe
NM_001354897.1:c.1924A>T	NP_001341826.1:p.Ile642Phe
NM_001354898.1:c.1819A>T	NP_001341827.1:p.Ile607Phe
NM_001354899.1:c.1810A>T	NP_001341828.1:p.Ile604Phe
NM_001354900.1:c.1771A>T	NP_001341829.1:p.Ile591Phe
NM_001354901.1:c.1717A>T	NP_001341830.1:p.Ile573Phe
NM_001354902.1:c.1621A>T	NP_001341831.1:p.Ile541Phe
NM_001354903.1:c.1591A>T	NP_001341832.1:p.Ile531Phe
NM_001354904.1:c.1516A>T	NP_001341833.1:p.Ile506Phe
NM_001354905.1:c.1414A>T	NP_001341834.1:p.Ile472Phe
NM_001354906.1:c.1045A>T	NP_001341835.1:p.Ile349Phe
NM_000038.6:c.1894A>T MANE Select	NP_000029.2:p.Ile632Phe
NM_001127510.3:c.1894A>T	NP_001120982.1:p.Ile632Phe
NM_001127511.3:c.1840A>T	NP_001120983.2:p.Ile614Phe
NM_001354895.2:c.1894A>T	NP_001341824.1:p.Ile632Phe
NM_001354896.2:c.1948A>T	NP_001341825.1:p.Ile650Phe
NM_001354897.2:c.1924A>T	NP_001341826.1:p.Ile642Phe
NM_001354898.2:c.1819A>T	NP_001341827.1:p.Ile607Phe
NM_001354899.2:c.1810A>T	NP_001341828.1:p.Ile604Phe
NM_001354900.2:c.1771A>T	NP_001341829.1:p.Ile591Phe
NM_001354901.2:c.1717A>T	NP_001341830.1:p.Ile573Phe
NM_001354902.2:c.1621A>T	NP_001341831.1:p.Ile541Phe
NM_001354903.2:c.1591A>T	NP_001341832.1:p.Ile531Phe
NM_001354904.2:c.1516A>T	NP_001341833.1:p.Ile506Phe
NM_001354905.2:c.1414A>T	NP_001341834.1:p.Ile472Phe
NM_001354906.2:c.1045A>T	NP_001341835.1:p.Ile349Phe