Canonical Allele Identifier: CA16024916

Gene: APC

Linked Data

• MyVariant Identifiers: chr5:g.112164577T>A (hg19) ; chr5:g.112828880T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112828880T>A , CM000667.2:g.112828880T>A	GRCh38
NC_000005.9:g.112164577T>A , CM000667.1:g.112164577T>A	GRCh37
NC_000005.8:g.112192476T>A	NCBI36
NG_008481.4:g.141360T>A , LRG_130:g.141360T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000502371.3:c.1409-6071T>A	ENSP00000484935.2:n.1409-6071T>A
ENST00000504915.3:c.1705T>A	ENSP00000473355.2:p.Leu569Met
ENST00000505084.2:n.1707T>A
ENST00000505350.2:c.*1657T>A	ENSP00000481752.1:n.*1657T>A
ENST00000507379.6:c.1597T>A	ENSP00000423224.2:p.Leu533Met
ENST00000509732.6:c.1651T>A	ENSP00000426541.2:p.Leu551Met
ENST00000512211.7:c.1651T>A	ENSP00000423828.3:p.Leu551Met
ENST00000257430.9:c.1651T>A MANE Select	ENSP00000257430.4:p.Leu551Met
ENST00000257430.8:c.1651T>A	ENSP00000257430.4:p.Leu551Met
ENST00000502371.2:c.97-6071T>A
ENST00000504915.2:c.340T>A	ENSP00000473355.1:p.Leu114Met
ENST00000505084.1:n.138T>A
ENST00000507379.5:c.1597T>A	ENSP00000423224.1:p.Leu533Met
ENST00000508376.6:c.1651T>A	ENSP00000427089.2:p.Leu551Met
ENST00000508624.5:c.*973T>A	ENSP00000424265.1:n.*973T>A
ENST00000512211.6:c.1651T>A	ENSP00000423828.2:p.Leu551Met
ENST00000520401.1:c.138T>A
NM_000038.5:c.1651T>A	NP_000029.2:p.Leu551Met
NM_001127510.2:c.1651T>A	NP_001120982.1:p.Leu551Met
NM_001127511.2:c.1597T>A	NP_001120983.2:p.Leu533Met
NM_001354895.1:c.1651T>A	NP_001341824.1:p.Leu551Met
NM_001354896.1:c.1705T>A	NP_001341825.1:p.Leu569Met
NM_001354897.1:c.1681T>A	NP_001341826.1:p.Leu561Met
NM_001354898.1:c.1576T>A	NP_001341827.1:p.Leu526Met
NM_001354899.1:c.1567T>A	NP_001341828.1:p.Leu523Met
NM_001354900.1:c.1528T>A	NP_001341829.1:p.Leu510Met
NM_001354901.1:c.1474T>A	NP_001341830.1:p.Leu492Met
NM_001354902.1:c.1378T>A	NP_001341831.1:p.Leu460Met
NM_001354903.1:c.1348T>A	NP_001341832.1:p.Leu450Met
NM_001354904.1:c.1273T>A	NP_001341833.1:p.Leu425Met
NM_001354905.1:c.1171T>A	NP_001341834.1:p.Leu391Met
NM_001354906.1:c.802T>A	NP_001341835.1:p.Leu268Met
NM_000038.6:c.1651T>A MANE Select	NP_000029.2:p.Leu551Met
NM_001127510.3:c.1651T>A	NP_001120982.1:p.Leu551Met
NM_001127511.3:c.1597T>A	NP_001120983.2:p.Leu533Met
NM_001354895.2:c.1651T>A	NP_001341824.1:p.Leu551Met
NM_001354896.2:c.1705T>A	NP_001341825.1:p.Leu569Met
NM_001354897.2:c.1681T>A	NP_001341826.1:p.Leu561Met
NM_001354898.2:c.1576T>A	NP_001341827.1:p.Leu526Met
NM_001354899.2:c.1567T>A	NP_001341828.1:p.Leu523Met
NM_001354900.2:c.1528T>A	NP_001341829.1:p.Leu510Met
NM_001354901.2:c.1474T>A	NP_001341830.1:p.Leu492Met
NM_001354902.2:c.1378T>A	NP_001341831.1:p.Leu460Met
NM_001354903.2:c.1348T>A	NP_001341832.1:p.Leu450Met
NM_001354904.2:c.1273T>A	NP_001341833.1:p.Leu425Met
NM_001354905.2:c.1171T>A	NP_001341834.1:p.Leu391Met
NM_001354906.2:c.802T>A	NP_001341835.1:p.Leu268Met