Canonical Allele Identifier: CA16023400

Gene: APC

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112818988T>A , CM000667.2:g.112818988T>A	GRCh38
NC_000005.9:g.112154685T>A , CM000667.1:g.112154685T>A	GRCh37
NC_000005.8:g.112182584T>A	NCBI36
NG_008481.4:g.131468T>A , LRG_130:g.131468T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000038.6:c.956T>A MANE Select	NP_000029.2:p.Leu319Ter
ENST00000257430.9:c.956T>A MANE Select	ENSP00000257430.4:p.Leu319Ter
NM_000038.5:c.956T>A	NP_000029.2:p.Leu319Ter
NM_001127510.2:c.956T>A	NP_001120982.1:p.Leu319Ter
NM_001127510.3:c.956T>A	NP_001120982.1:p.Leu319Ter
NM_001127511.2:c.902T>A	NP_001120983.2:p.Leu301Ter
NM_001127511.3:c.902T>A	NP_001120983.2:p.Leu301Ter
NM_001354895.1:c.956T>A	NP_001341824.1:p.Leu319Ter
NM_001354895.2:c.956T>A	NP_001341824.1:p.Leu319Ter
NM_001354896.1:c.956T>A	NP_001341825.1:p.Leu319Ter
NM_001354896.2:c.956T>A	NP_001341825.1:p.Leu319Ter
NM_001354897.1:c.986T>A	NP_001341826.1:p.Leu329Ter
NM_001354897.2:c.986T>A	NP_001341826.1:p.Leu329Ter
NM_001354898.1:c.881T>A	NP_001341827.1:p.Leu294Ter
NM_001354898.2:c.881T>A	NP_001341827.1:p.Leu294Ter
NM_001354899.1:c.872T>A	NP_001341828.1:p.Leu291Ter
NM_001354899.2:c.872T>A	NP_001341828.1:p.Leu291Ter
NM_001354900.1:c.779T>A	NP_001341829.1:p.Leu260Ter
NM_001354900.2:c.779T>A	NP_001341829.1:p.Leu260Ter
NM_001354901.1:c.779T>A	NP_001341830.1:p.Leu260Ter
NM_001354901.2:c.779T>A	NP_001341830.1:p.Leu260Ter
NM_001354902.1:c.964-281T>A	NP_001341831.1:n.964-281T>A
NM_001354902.2:c.964-281T>A	NP_001341831.1:n.964-281T>A
NM_001354903.1:c.934-281T>A	NP_001341832.1:n.934-281T>A
NM_001354903.2:c.934-281T>A	NP_001341832.1:n.934-281T>A
NM_001354904.1:c.859-281T>A	NP_001341833.1:n.859-281T>A
NM_001354904.2:c.859-281T>A	NP_001341833.1:n.859-281T>A
NM_001354905.1:c.757-281T>A	NP_001341834.1:n.757-281T>A
NM_001354905.2:c.757-281T>A	NP_001341834.1:n.757-281T>A
NM_001354906.1:c.107T>A	NP_001341835.1:p.Leu36Ter
NM_001354906.2:c.107T>A	NP_001341835.1:p.Leu36Ter
ENST00000257430.8:c.956T>A	ENSP00000257430.4:p.Leu319Ter
ENST00000502371.3:c.956T>A	ENSP00000484935.2:p.Leu319Ter
ENST00000504915.3:c.956T>A	ENSP00000473355.2:p.Leu319Ter
ENST00000505084.2:n.1012T>A
ENST00000505350.2:c.*962T>A	ENSP00000481752.1:n.*962T>A
ENST00000507379.5:c.902T>A	ENSP00000423224.1:p.Leu301Ter
ENST00000507379.6:c.902T>A	ENSP00000423224.2:p.Leu301Ter
ENST00000508376.6:c.956T>A	ENSP00000427089.2:p.Leu319Ter
ENST00000508624.5:c.*278T>A	ENSP00000424265.1:n.*278T>A
ENST00000509732.6:c.956T>A	ENSP00000426541.2:p.Leu319Ter
ENST00000512211.6:c.956T>A	ENSP00000423828.2:p.Leu319Ter
ENST00000512211.7:c.956T>A	ENSP00000423828.3:p.Leu319Ter