Canonical Allele Identifier: CA16025181

Gene: APC

Linked Data

• dbSNP Id: rs2149841166
• MyVariant Identifiers: chr5:g.112170672A>T (hg19) ; chr5:g.112834975A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112834975A>T , CM000667.2:g.112834975A>T	GRCh38
NC_000005.9:g.112170672A>T , CM000667.1:g.112170672A>T	GRCh37
NC_000005.8:g.112198571A>T	NCBI36
NG_008481.4:g.147455A>T , LRG_130:g.147455A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502371.3:c.1433A>T	ENSP00000484935.2:p.Glu478Val
ENST00000504915.3:c.1822A>T	ENSP00000473355.2:p.Ser608Cys
ENST00000505350.2:c.*1774A>T	ENSP00000481752.1:n.*1774A>T
ENST00000507379.6:c.1714A>T	ENSP00000423224.2:p.Ser572Cys
ENST00000509732.6:c.1768A>T	ENSP00000426541.2:p.Ser590Cys
ENST00000512211.7:c.1768A>T	ENSP00000423828.3:p.Ser590Cys
ENST00000257430.9:c.1768A>T MANE Select	ENSP00000257430.4:p.Ser590Cys
ENST00000257430.8:c.1768A>T	ENSP00000257430.4:p.Ser590Cys
ENST00000502371.2:c.121A>T
ENST00000504915.2:c.457A>T	ENSP00000473355.1:p.Ser153Cys
ENST00000507379.5:c.1714A>T	ENSP00000423224.1:p.Ser572Cys
ENST00000508376.6:c.1768A>T	ENSP00000427089.2:p.Ser590Cys
ENST00000508624.5:c.*1090A>T	ENSP00000424265.1:n.*1090A>T
ENST00000512211.6:c.1768A>T	ENSP00000423828.2:p.Ser590Cys
ENST00000520401.1:c.230+6003A>T
NM_000038.5:c.1768A>T	NP_000029.2:p.Ser590Cys
NM_001127510.2:c.1768A>T	NP_001120982.1:p.Ser590Cys
NM_001127511.2:c.1714A>T	NP_001120983.2:p.Ser572Cys
NM_001354895.1:c.1768A>T	NP_001341824.1:p.Ser590Cys
NM_001354896.1:c.1822A>T	NP_001341825.1:p.Ser608Cys
NM_001354897.1:c.1798A>T	NP_001341826.1:p.Ser600Cys
NM_001354898.1:c.1693A>T	NP_001341827.1:p.Ser565Cys
NM_001354899.1:c.1684A>T	NP_001341828.1:p.Ser562Cys
NM_001354900.1:c.1645A>T	NP_001341829.1:p.Ser549Cys
NM_001354901.1:c.1591A>T	NP_001341830.1:p.Ser531Cys
NM_001354902.1:c.1495A>T	NP_001341831.1:p.Ser499Cys
NM_001354903.1:c.1465A>T	NP_001341832.1:p.Ser489Cys
NM_001354904.1:c.1390A>T	NP_001341833.1:p.Ser464Cys
NM_001354905.1:c.1288A>T	NP_001341834.1:p.Ser430Cys
NM_001354906.1:c.919A>T	NP_001341835.1:p.Ser307Cys
NM_000038.6:c.1768A>T MANE Select	NP_000029.2:p.Ser590Cys
NM_001127510.3:c.1768A>T	NP_001120982.1:p.Ser590Cys
NM_001127511.3:c.1714A>T	NP_001120983.2:p.Ser572Cys
NM_001354895.2:c.1768A>T	NP_001341824.1:p.Ser590Cys
NM_001354896.2:c.1822A>T	NP_001341825.1:p.Ser608Cys
NM_001354897.2:c.1798A>T	NP_001341826.1:p.Ser600Cys
NM_001354898.2:c.1693A>T	NP_001341827.1:p.Ser565Cys
NM_001354899.2:c.1684A>T	NP_001341828.1:p.Ser562Cys
NM_001354900.2:c.1645A>T	NP_001341829.1:p.Ser549Cys
NM_001354901.2:c.1591A>T	NP_001341830.1:p.Ser531Cys
NM_001354902.2:c.1495A>T	NP_001341831.1:p.Ser499Cys
NM_001354903.2:c.1465A>T	NP_001341832.1:p.Ser489Cys
NM_001354904.2:c.1390A>T	NP_001341833.1:p.Ser464Cys
NM_001354905.2:c.1288A>T	NP_001341834.1:p.Ser430Cys
NM_001354906.2:c.919A>T	NP_001341835.1:p.Ser307Cys