Canonical Allele Identifier: CA16025193

Gene: APC

Linked Data

• dbSNP Id: rs2149841263
• MyVariant Identifiers: chr5:g.112170678T>A (hg19) ; chr5:g.112834981T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112834981T>A , CM000667.2:g.112834981T>A	GRCh38
NC_000005.9:g.112170678T>A , CM000667.1:g.112170678T>A	GRCh37
NC_000005.8:g.112198577T>A	NCBI36
NG_008481.4:g.147461T>A , LRG_130:g.147461T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502371.3:c.1439T>A	ENSP00000484935.2:p.Leu480His
ENST00000504915.3:c.1828T>A	ENSP00000473355.2:p.Leu610Ile
ENST00000505350.2:c.*1780T>A	ENSP00000481752.1:n.*1780T>A
ENST00000507379.6:c.1720T>A	ENSP00000423224.2:p.Leu574Ile
ENST00000509732.6:c.1774T>A	ENSP00000426541.2:p.Leu592Ile
ENST00000512211.7:c.1774T>A	ENSP00000423828.3:p.Leu592Ile
ENST00000257430.9:c.1774T>A MANE Select	ENSP00000257430.4:p.Leu592Ile
ENST00000257430.8:c.1774T>A	ENSP00000257430.4:p.Leu592Ile
ENST00000502371.2:c.127T>A
ENST00000504915.2:c.463T>A	ENSP00000473355.1:p.Leu155Ile
ENST00000507379.5:c.1720T>A	ENSP00000423224.1:p.Leu574Ile
ENST00000508376.6:c.1774T>A	ENSP00000427089.2:p.Leu592Ile
ENST00000508624.5:c.*1096T>A	ENSP00000424265.1:n.*1096T>A
ENST00000512211.6:c.1774T>A	ENSP00000423828.2:p.Leu592Ile
ENST00000520401.1:c.230+6009T>A
NM_000038.5:c.1774T>A	NP_000029.2:p.Leu592Ile
NM_001127510.2:c.1774T>A	NP_001120982.1:p.Leu592Ile
NM_001127511.2:c.1720T>A	NP_001120983.2:p.Leu574Ile
NM_001354895.1:c.1774T>A	NP_001341824.1:p.Leu592Ile
NM_001354896.1:c.1828T>A	NP_001341825.1:p.Leu610Ile
NM_001354897.1:c.1804T>A	NP_001341826.1:p.Leu602Ile
NM_001354898.1:c.1699T>A	NP_001341827.1:p.Leu567Ile
NM_001354899.1:c.1690T>A	NP_001341828.1:p.Leu564Ile
NM_001354900.1:c.1651T>A	NP_001341829.1:p.Leu551Ile
NM_001354901.1:c.1597T>A	NP_001341830.1:p.Leu533Ile
NM_001354902.1:c.1501T>A	NP_001341831.1:p.Leu501Ile
NM_001354903.1:c.1471T>A	NP_001341832.1:p.Leu491Ile
NM_001354904.1:c.1396T>A	NP_001341833.1:p.Leu466Ile
NM_001354905.1:c.1294T>A	NP_001341834.1:p.Leu432Ile
NM_001354906.1:c.925T>A	NP_001341835.1:p.Leu309Ile
NM_000038.6:c.1774T>A MANE Select	NP_000029.2:p.Leu592Ile
NM_001127510.3:c.1774T>A	NP_001120982.1:p.Leu592Ile
NM_001127511.3:c.1720T>A	NP_001120983.2:p.Leu574Ile
NM_001354895.2:c.1774T>A	NP_001341824.1:p.Leu592Ile
NM_001354896.2:c.1828T>A	NP_001341825.1:p.Leu610Ile
NM_001354897.2:c.1804T>A	NP_001341826.1:p.Leu602Ile
NM_001354898.2:c.1699T>A	NP_001341827.1:p.Leu567Ile
NM_001354899.2:c.1690T>A	NP_001341828.1:p.Leu564Ile
NM_001354900.2:c.1651T>A	NP_001341829.1:p.Leu551Ile
NM_001354901.2:c.1597T>A	NP_001341830.1:p.Leu533Ile
NM_001354902.2:c.1501T>A	NP_001341831.1:p.Leu501Ile
NM_001354903.2:c.1471T>A	NP_001341832.1:p.Leu491Ile
NM_001354904.2:c.1396T>A	NP_001341833.1:p.Leu466Ile
NM_001354905.2:c.1294T>A	NP_001341834.1:p.Leu432Ile
NM_001354906.2:c.925T>A	NP_001341835.1:p.Leu309Ile