Canonical Allele Identifier: CA16023994

Gene: APC

Linked Data

• dbSNP Id: rs2149782841
• MyVariant Identifiers: chr5:g.112154959G>T (hg19) ; chr5:g.112819262G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112819262G>T , CM000667.2:g.112819262G>T	GRCh38
NC_000005.9:g.112154959G>T , CM000667.1:g.112154959G>T	GRCh37
NC_000005.8:g.112182858G>T	NCBI36
NG_008481.4:g.131742G>T , LRG_130:g.131742G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502371.3:c.1230G>T	ENSP00000484935.2:p.Leu410Phe
ENST00000504915.3:c.1230G>T	ENSP00000473355.2:p.Leu410Phe
ENST00000505084.2:n.1286G>T
ENST00000505350.2:c.*1236G>T	ENSP00000481752.1:n.*1236G>T
ENST00000507379.6:c.1176G>T	ENSP00000423224.2:p.Leu392Phe
ENST00000509732.6:c.1230G>T	ENSP00000426541.2:p.Leu410Phe
ENST00000512211.7:c.1230G>T	ENSP00000423828.3:p.Leu410Phe
ENST00000257430.9:c.1230G>T MANE Select	ENSP00000257430.4:p.Leu410Phe
ENST00000257430.8:c.1230G>T	ENSP00000257430.4:p.Leu410Phe
ENST00000507379.5:c.1176G>T	ENSP00000423224.1:p.Leu392Phe
ENST00000508376.6:c.1230G>T	ENSP00000427089.2:p.Leu410Phe
ENST00000508624.5:c.*552G>T	ENSP00000424265.1:n.*552G>T
ENST00000512211.6:c.1230G>T	ENSP00000423828.2:p.Leu410Phe
NM_000038.5:c.1230G>T	NP_000029.2:p.Leu410Phe
NM_001127510.2:c.1230G>T	NP_001120982.1:p.Leu410Phe
NM_001127511.2:c.1176G>T	NP_001120983.2:p.Leu392Phe
NM_001354895.1:c.1230G>T	NP_001341824.1:p.Leu410Phe
NM_001354896.1:c.1230G>T	NP_001341825.1:p.Leu410Phe
NM_001354897.1:c.1260G>T	NP_001341826.1:p.Leu420Phe
NM_001354898.1:c.1155G>T	NP_001341827.1:p.Leu385Phe
NM_001354899.1:c.1146G>T	NP_001341828.1:p.Leu382Phe
NM_001354900.1:c.1053G>T	NP_001341829.1:p.Leu351Phe
NM_001354901.1:c.1053G>T	NP_001341830.1:p.Leu351Phe
NM_001354902.1:c.964-7G>T	NP_001341831.1:n.964-7G>T
NM_001354903.1:c.934-7G>T	NP_001341832.1:n.934-7G>T
NM_001354904.1:c.859-7G>T	NP_001341833.1:n.859-7G>T
NM_001354905.1:c.757-7G>T	NP_001341834.1:n.757-7G>T
NM_001354906.1:c.381G>T	NP_001341835.1:p.Leu127Phe
NM_000038.6:c.1230G>T MANE Select	NP_000029.2:p.Leu410Phe
NM_001127510.3:c.1230G>T	NP_001120982.1:p.Leu410Phe
NM_001127511.3:c.1176G>T	NP_001120983.2:p.Leu392Phe
NM_001354895.2:c.1230G>T	NP_001341824.1:p.Leu410Phe
NM_001354896.2:c.1230G>T	NP_001341825.1:p.Leu410Phe
NM_001354897.2:c.1260G>T	NP_001341826.1:p.Leu420Phe
NM_001354898.2:c.1155G>T	NP_001341827.1:p.Leu385Phe
NM_001354899.2:c.1146G>T	NP_001341828.1:p.Leu382Phe
NM_001354900.2:c.1053G>T	NP_001341829.1:p.Leu351Phe
NM_001354901.2:c.1053G>T	NP_001341830.1:p.Leu351Phe
NM_001354902.2:c.964-7G>T	NP_001341831.1:n.964-7G>T
NM_001354903.2:c.934-7G>T	NP_001341832.1:n.934-7G>T
NM_001354904.2:c.859-7G>T	NP_001341833.1:n.859-7G>T
NM_001354905.2:c.757-7G>T	NP_001341834.1:n.757-7G>T
NM_001354906.2:c.381G>T	NP_001341835.1:p.Leu127Phe