Canonical Allele Identifier: CA16025227

Gene: APC

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112834994C>A , CM000667.2:g.112834994C>A	GRCh38
NC_000005.9:g.112170691C>A , CM000667.1:g.112170691C>A	GRCh37
NC_000005.8:g.112198590C>A	NCBI36
NG_008481.4:g.147474C>A , LRG_130:g.147474C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000038.6:c.1787C>A MANE Select	NP_000029.2:p.Ser596Ter
ENST00000257430.9:c.1787C>A MANE Select	ENSP00000257430.4:p.Ser596Ter
NM_000038.5:c.1787C>A	NP_000029.2:p.Ser596Ter
NM_001127510.2:c.1787C>A	NP_001120982.1:p.Ser596Ter
NM_001127510.3:c.1787C>A	NP_001120982.1:p.Ser596Ter
NM_001127511.2:c.1733C>A	NP_001120983.2:p.Ser578Ter
NM_001127511.3:c.1733C>A	NP_001120983.2:p.Ser578Ter
NM_001354895.1:c.1787C>A	NP_001341824.1:p.Ser596Ter
NM_001354895.2:c.1787C>A	NP_001341824.1:p.Ser596Ter
NM_001354896.1:c.1841C>A	NP_001341825.1:p.Ser614Ter
NM_001354896.2:c.1841C>A	NP_001341825.1:p.Ser614Ter
NM_001354897.1:c.1817C>A	NP_001341826.1:p.Ser606Ter
NM_001354897.2:c.1817C>A	NP_001341826.1:p.Ser606Ter
NM_001354898.1:c.1712C>A	NP_001341827.1:p.Ser571Ter
NM_001354898.2:c.1712C>A	NP_001341827.1:p.Ser571Ter
NM_001354899.1:c.1703C>A	NP_001341828.1:p.Ser568Ter
NM_001354899.2:c.1703C>A	NP_001341828.1:p.Ser568Ter
NM_001354900.1:c.1664C>A	NP_001341829.1:p.Ser555Ter
NM_001354900.2:c.1664C>A	NP_001341829.1:p.Ser555Ter
NM_001354901.1:c.1610C>A	NP_001341830.1:p.Ser537Ter
NM_001354901.2:c.1610C>A	NP_001341830.1:p.Ser537Ter
NM_001354902.1:c.1514C>A	NP_001341831.1:p.Ser505Ter
NM_001354902.2:c.1514C>A	NP_001341831.1:p.Ser505Ter
NM_001354903.1:c.1484C>A	NP_001341832.1:p.Ser495Ter
NM_001354903.2:c.1484C>A	NP_001341832.1:p.Ser495Ter
NM_001354904.1:c.1409C>A	NP_001341833.1:p.Ser470Ter
NM_001354904.2:c.1409C>A	NP_001341833.1:p.Ser470Ter
NM_001354905.1:c.1307C>A	NP_001341834.1:p.Ser436Ter
NM_001354905.2:c.1307C>A	NP_001341834.1:p.Ser436Ter
NM_001354906.1:c.938C>A	NP_001341835.1:p.Ser313Ter
NM_001354906.2:c.938C>A	NP_001341835.1:p.Ser313Ter
ENST00000257430.8:c.1787C>A	ENSP00000257430.4:p.Ser596Ter
ENST00000502371.2:c.140C>A
ENST00000502371.3:c.1452C>A	ENSP00000484935.2:p.Val484=
ENST00000504915.2:c.476C>A	ENSP00000473355.1:p.Ser159Ter
ENST00000504915.3:c.1841C>A	ENSP00000473355.2:p.Ser614Ter
ENST00000505350.2:c.*1793C>A	ENSP00000481752.1:n.*1793C>A
ENST00000507379.5:c.1733C>A	ENSP00000423224.1:p.Ser578Ter
ENST00000507379.6:c.1733C>A	ENSP00000423224.2:p.Ser578Ter
ENST00000508376.6:c.1787C>A	ENSP00000427089.2:p.Ser596Ter
ENST00000508624.5:c.*1109C>A	ENSP00000424265.1:n.*1109C>A
ENST00000509732.6:c.1787C>A	ENSP00000426541.2:p.Ser596Ter
ENST00000512211.6:c.1787C>A	ENSP00000423828.2:p.Ser596Ter
ENST00000512211.7:c.1787C>A	ENSP00000423828.3:p.Ser596Ter
ENST00000520401.1:c.230+6022C>A