Canonical Allele Identifier: CA16025187

Gene: APC

Linked Data

• dbSNP Id: rs2149841213
• MyVariant Identifiers: chr5:g.112170675G>A (hg19) ; chr5:g.112834978G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112834978G>A , CM000667.2:g.112834978G>A	GRCh38
NC_000005.9:g.112170675G>A , CM000667.1:g.112170675G>A	GRCh37
NC_000005.8:g.112198574G>A	NCBI36
NG_008481.4:g.147458G>A , LRG_130:g.147458G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502371.3:c.1436G>A	ENSP00000484935.2:p.Cys479Tyr
ENST00000504915.3:c.1825G>A	ENSP00000473355.2:p.Ala609Thr
ENST00000505350.2:c.*1777G>A	ENSP00000481752.1:n.*1777G>A
ENST00000507379.6:c.1717G>A	ENSP00000423224.2:p.Ala573Thr
ENST00000509732.6:c.1771G>A	ENSP00000426541.2:p.Ala591Thr
ENST00000512211.7:c.1771G>A	ENSP00000423828.3:p.Ala591Thr
ENST00000257430.9:c.1771G>A MANE Select	ENSP00000257430.4:p.Ala591Thr
ENST00000257430.8:c.1771G>A	ENSP00000257430.4:p.Ala591Thr
ENST00000502371.2:c.124G>A
ENST00000504915.2:c.460G>A	ENSP00000473355.1:p.Ala154Thr
ENST00000507379.5:c.1717G>A	ENSP00000423224.1:p.Ala573Thr
ENST00000508376.6:c.1771G>A	ENSP00000427089.2:p.Ala591Thr
ENST00000508624.5:c.*1093G>A	ENSP00000424265.1:n.*1093G>A
ENST00000512211.6:c.1771G>A	ENSP00000423828.2:p.Ala591Thr
ENST00000520401.1:c.230+6006G>A
NM_000038.5:c.1771G>A	NP_000029.2:p.Ala591Thr
NM_001127510.2:c.1771G>A	NP_001120982.1:p.Ala591Thr
NM_001127511.2:c.1717G>A	NP_001120983.2:p.Ala573Thr
NM_001354895.1:c.1771G>A	NP_001341824.1:p.Ala591Thr
NM_001354896.1:c.1825G>A	NP_001341825.1:p.Ala609Thr
NM_001354897.1:c.1801G>A	NP_001341826.1:p.Ala601Thr
NM_001354898.1:c.1696G>A	NP_001341827.1:p.Ala566Thr
NM_001354899.1:c.1687G>A	NP_001341828.1:p.Ala563Thr
NM_001354900.1:c.1648G>A	NP_001341829.1:p.Ala550Thr
NM_001354901.1:c.1594G>A	NP_001341830.1:p.Ala532Thr
NM_001354902.1:c.1498G>A	NP_001341831.1:p.Ala500Thr
NM_001354903.1:c.1468G>A	NP_001341832.1:p.Ala490Thr
NM_001354904.1:c.1393G>A	NP_001341833.1:p.Ala465Thr
NM_001354905.1:c.1291G>A	NP_001341834.1:p.Ala431Thr
NM_001354906.1:c.922G>A	NP_001341835.1:p.Ala308Thr
NM_000038.6:c.1771G>A MANE Select	NP_000029.2:p.Ala591Thr
NM_001127510.3:c.1771G>A	NP_001120982.1:p.Ala591Thr
NM_001127511.3:c.1717G>A	NP_001120983.2:p.Ala573Thr
NM_001354895.2:c.1771G>A	NP_001341824.1:p.Ala591Thr
NM_001354896.2:c.1825G>A	NP_001341825.1:p.Ala609Thr
NM_001354897.2:c.1801G>A	NP_001341826.1:p.Ala601Thr
NM_001354898.2:c.1696G>A	NP_001341827.1:p.Ala566Thr
NM_001354899.2:c.1687G>A	NP_001341828.1:p.Ala563Thr
NM_001354900.2:c.1648G>A	NP_001341829.1:p.Ala550Thr
NM_001354901.2:c.1594G>A	NP_001341830.1:p.Ala532Thr
NM_001354902.2:c.1498G>A	NP_001341831.1:p.Ala500Thr
NM_001354903.2:c.1468G>A	NP_001341832.1:p.Ala490Thr
NM_001354904.2:c.1393G>A	NP_001341833.1:p.Ala465Thr
NM_001354905.2:c.1291G>A	NP_001341834.1:p.Ala431Thr
NM_001354906.2:c.922G>A	NP_001341835.1:p.Ala308Thr