Canonical Allele Identifier: CA445755754

Gene: APC

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112818989G>A , CM000667.2:g.112818989G>A	GRCh38
NC_000005.9:g.112154686G>A , CM000667.1:g.112154686G>A	GRCh37
NC_000005.8:g.112182585G>A	NCBI36
NG_008481.4:g.131469G>A , LRG_130:g.131469G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000038.6:c.957G>A MANE Select	NP_000029.2:p.Leu319=
ENST00000257430.9:c.957G>A MANE Select	ENSP00000257430.4:p.Leu319=
NM_000038.5:c.957G>A	NP_000029.2:p.Leu319=
NM_001127510.2:c.957G>A	NP_001120982.1:p.Leu319=
NM_001127510.3:c.957G>A	NP_001120982.1:p.Leu319=
NM_001127511.2:c.903G>A	NP_001120983.2:p.Leu301=
NM_001127511.3:c.903G>A	NP_001120983.2:p.Leu301=
NM_001354895.1:c.957G>A	NP_001341824.1:p.Leu319=
NM_001354895.2:c.957G>A	NP_001341824.1:p.Leu319=
NM_001354896.1:c.957G>A	NP_001341825.1:p.Leu319=
NM_001354896.2:c.957G>A	NP_001341825.1:p.Leu319=
NM_001354897.1:c.987G>A	NP_001341826.1:p.Leu329=
NM_001354897.2:c.987G>A	NP_001341826.1:p.Leu329=
NM_001354898.1:c.882G>A	NP_001341827.1:p.Leu294=
NM_001354898.2:c.882G>A	NP_001341827.1:p.Leu294=
NM_001354899.1:c.873G>A	NP_001341828.1:p.Leu291=
NM_001354899.2:c.873G>A	NP_001341828.1:p.Leu291=
NM_001354900.1:c.780G>A	NP_001341829.1:p.Leu260=
NM_001354900.2:c.780G>A	NP_001341829.1:p.Leu260=
NM_001354901.1:c.780G>A	NP_001341830.1:p.Leu260=
NM_001354901.2:c.780G>A	NP_001341830.1:p.Leu260=
NM_001354902.1:c.964-280G>A	NP_001341831.1:n.964-280G>A
NM_001354902.2:c.964-280G>A	NP_001341831.1:n.964-280G>A
NM_001354903.1:c.934-280G>A	NP_001341832.1:n.934-280G>A
NM_001354903.2:c.934-280G>A	NP_001341832.1:n.934-280G>A
NM_001354904.1:c.859-280G>A	NP_001341833.1:n.859-280G>A
NM_001354904.2:c.859-280G>A	NP_001341833.1:n.859-280G>A
NM_001354905.1:c.757-280G>A	NP_001341834.1:n.757-280G>A
NM_001354905.2:c.757-280G>A	NP_001341834.1:n.757-280G>A
NM_001354906.1:c.108G>A	NP_001341835.1:p.Leu36=
NM_001354906.2:c.108G>A	NP_001341835.1:p.Leu36=
ENST00000257430.8:c.957G>A	ENSP00000257430.4:p.Leu319=
ENST00000502371.3:c.957G>A	ENSP00000484935.2:p.Leu319=
ENST00000504915.3:c.957G>A	ENSP00000473355.2:p.Leu319=
ENST00000505084.2:n.1013G>A
ENST00000505350.2:c.*963G>A	ENSP00000481752.1:n.*963G>A
ENST00000507379.5:c.903G>A	ENSP00000423224.1:p.Leu301=
ENST00000507379.6:c.903G>A	ENSP00000423224.2:p.Leu301=
ENST00000508376.6:c.957G>A	ENSP00000427089.2:p.Leu319=
ENST00000508624.5:c.*279G>A	ENSP00000424265.1:n.*279G>A
ENST00000509732.6:c.957G>A	ENSP00000426541.2:p.Leu319=
ENST00000512211.6:c.957G>A	ENSP00000423828.2:p.Leu319=
ENST00000512211.7:c.957G>A	ENSP00000423828.3:p.Leu319=