Canonical Allele Identifier: CA16028748

Gene: APC

Linked Data

• dbSNP Id: rs2149890847
• MyVariant Identifiers: chr5:g.112174676T>A (hg19) ; chr5:g.112838979T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112838979T>A , CM000667.2:g.112838979T>A	GRCh38
NC_000005.9:g.112174676T>A , CM000667.1:g.112174676T>A	GRCh37
NC_000005.8:g.112202575T>A	NCBI36
NG_008481.4:g.151459T>A , LRG_130:g.151459T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502371.3:c.3050T>A	ENSP00000484935.2:n.3050T>A
ENST00000504915.3:c.3439T>A	ENSP00000473355.2:p.Leu1147Met
ENST00000505350.2:c.*3391T>A	ENSP00000481752.1:n.*3391T>A
ENST00000507379.6:c.3331T>A	ENSP00000423224.2:p.Leu1111Met
ENST00000509732.6:c.3385T>A	ENSP00000426541.2:p.Leu1129Met
ENST00000512211.7:c.3385T>A	ENSP00000423828.3:p.Leu1129Met
ENST00000257430.9:c.3385T>A MANE Select	ENSP00000257430.4:p.Leu1129Met
ENST00000257430.8:c.3385T>A	ENSP00000257430.4:p.Leu1129Met
ENST00000502371.2:c.1738T>A
ENST00000507379.5:c.3331T>A	ENSP00000423224.1:p.Leu1111Met
ENST00000508376.6:c.3385T>A	ENSP00000427089.2:p.Leu1129Met
ENST00000508624.5:c.*2707T>A	ENSP00000424265.1:n.*2707T>A
ENST00000512211.6:c.3385T>A	ENSP00000423828.2:p.Leu1129Met
ENST00000520401.1:c.230+10007T>A
NM_000038.5:c.3385T>A	NP_000029.2:p.Leu1129Met
NM_001127510.2:c.3385T>A	NP_001120982.1:p.Leu1129Met
NM_001127511.2:c.3331T>A	NP_001120983.2:p.Leu1111Met
NM_001354895.1:c.3385T>A	NP_001341824.1:p.Leu1129Met
NM_001354896.1:c.3439T>A	NP_001341825.1:p.Leu1147Met
NM_001354897.1:c.3415T>A	NP_001341826.1:p.Leu1139Met
NM_001354898.1:c.3310T>A	NP_001341827.1:p.Leu1104Met
NM_001354899.1:c.3301T>A	NP_001341828.1:p.Leu1101Met
NM_001354900.1:c.3262T>A	NP_001341829.1:p.Leu1088Met
NM_001354901.1:c.3208T>A	NP_001341830.1:p.Leu1070Met
NM_001354902.1:c.3112T>A	NP_001341831.1:p.Leu1038Met
NM_001354903.1:c.3082T>A	NP_001341832.1:p.Leu1028Met
NM_001354904.1:c.3007T>A	NP_001341833.1:p.Leu1003Met
NM_001354905.1:c.2905T>A	NP_001341834.1:p.Leu969Met
NM_001354906.1:c.2536T>A	NP_001341835.1:p.Leu846Met
NM_000038.6:c.3385T>A MANE Select	NP_000029.2:p.Leu1129Met
NM_001127510.3:c.3385T>A	NP_001120982.1:p.Leu1129Met
NM_001127511.3:c.3331T>A	NP_001120983.2:p.Leu1111Met
NM_001354895.2:c.3385T>A	NP_001341824.1:p.Leu1129Met
NM_001354896.2:c.3439T>A	NP_001341825.1:p.Leu1147Met
NM_001354897.2:c.3415T>A	NP_001341826.1:p.Leu1139Met
NM_001354898.2:c.3310T>A	NP_001341827.1:p.Leu1104Met
NM_001354899.2:c.3301T>A	NP_001341828.1:p.Leu1101Met
NM_001354900.2:c.3262T>A	NP_001341829.1:p.Leu1088Met
NM_001354901.2:c.3208T>A	NP_001341830.1:p.Leu1070Met
NM_001354902.2:c.3112T>A	NP_001341831.1:p.Leu1038Met
NM_001354903.2:c.3082T>A	NP_001341832.1:p.Leu1028Met
NM_001354904.2:c.3007T>A	NP_001341833.1:p.Leu1003Met
NM_001354905.2:c.2905T>A	NP_001341834.1:p.Leu969Met
NM_001354906.2:c.2536T>A	NP_001341835.1:p.Leu846Met