Canonical Allele Identifier: CA16027776

Gene: APC

Linked Data

• ClinVar Variation Id: 433638
• ClinVar RCV Id: RCV000500319 ; RCV002524127 ; RCV003535792
• dbSNP Id: rs1254176854
• MyVariant Identifiers: chr5:g.112174241G>T (hg19) ; chr5:g.112838544G>T (hg38)
• PubMed: PMID:20685668

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112838544G>T , CM000667.2:g.112838544G>T	GRCh38
NC_000005.9:g.112174241G>T , CM000667.1:g.112174241G>T	GRCh37
NC_000005.8:g.112202140G>T	NCBI36
NG_008481.4:g.151024G>T , LRG_130:g.151024G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502371.3:c.2615G>T	ENSP00000484935.2:n.2615G>T
ENST00000504915.3:c.3004G>T	ENSP00000473355.2:p.Glu1002Ter
ENST00000505350.2:c.*2956G>T	ENSP00000481752.1:n.*2956G>T
ENST00000507379.6:c.2896G>T	ENSP00000423224.2:p.Glu966Ter
ENST00000509732.6:c.2950G>T	ENSP00000426541.2:p.Glu984Ter
ENST00000512211.7:c.2950G>T	ENSP00000423828.3:p.Glu984Ter
ENST00000257430.9:c.2950G>T MANE Select	ENSP00000257430.4:p.Glu984Ter
ENST00000257430.8:c.2950G>T	ENSP00000257430.4:p.Glu984Ter
ENST00000502371.2:c.1303G>T
ENST00000507379.5:c.2896G>T	ENSP00000423224.1:p.Glu966Ter
ENST00000508376.6:c.2950G>T	ENSP00000427089.2:p.Glu984Ter
ENST00000508624.5:c.*2272G>T	ENSP00000424265.1:n.*2272G>T
ENST00000512211.6:c.2950G>T	ENSP00000423828.2:p.Glu984Ter
ENST00000520401.1:c.230+9572G>T
NM_000038.5:c.2950G>T	NP_000029.2:p.Glu984Ter
NM_001127510.2:c.2950G>T	NP_001120982.1:p.Glu984Ter
NM_001127511.2:c.2896G>T	NP_001120983.2:p.Glu966Ter
NM_001354895.1:c.2950G>T	NP_001341824.1:p.Glu984Ter
NM_001354896.1:c.3004G>T	NP_001341825.1:p.Glu1002Ter
NM_001354897.1:c.2980G>T	NP_001341826.1:p.Glu994Ter
NM_001354898.1:c.2875G>T	NP_001341827.1:p.Glu959Ter
NM_001354899.1:c.2866G>T	NP_001341828.1:p.Glu956Ter
NM_001354900.1:c.2827G>T	NP_001341829.1:p.Glu943Ter
NM_001354901.1:c.2773G>T	NP_001341830.1:p.Glu925Ter
NM_001354902.1:c.2677G>T	NP_001341831.1:p.Glu893Ter
NM_001354903.1:c.2647G>T	NP_001341832.1:p.Glu883Ter
NM_001354904.1:c.2572G>T	NP_001341833.1:p.Glu858Ter
NM_001354905.1:c.2470G>T	NP_001341834.1:p.Glu824Ter
NM_001354906.1:c.2101G>T	NP_001341835.1:p.Glu701Ter
NM_000038.6:c.2950G>T MANE Select	NP_000029.2:p.Glu984Ter
NM_001127510.3:c.2950G>T	NP_001120982.1:p.Glu984Ter
NM_001127511.3:c.2896G>T	NP_001120983.2:p.Glu966Ter
NM_001354895.2:c.2950G>T	NP_001341824.1:p.Glu984Ter
NM_001354896.2:c.3004G>T	NP_001341825.1:p.Glu1002Ter
NM_001354897.2:c.2980G>T	NP_001341826.1:p.Glu994Ter
NM_001354898.2:c.2875G>T	NP_001341827.1:p.Glu959Ter
NM_001354899.2:c.2866G>T	NP_001341828.1:p.Glu956Ter
NM_001354900.2:c.2827G>T	NP_001341829.1:p.Glu943Ter
NM_001354901.2:c.2773G>T	NP_001341830.1:p.Glu925Ter
NM_001354902.2:c.2677G>T	NP_001341831.1:p.Glu893Ter
NM_001354903.2:c.2647G>T	NP_001341832.1:p.Glu883Ter
NM_001354904.2:c.2572G>T	NP_001341833.1:p.Glu858Ter
NM_001354905.2:c.2470G>T	NP_001341834.1:p.Glu824Ter
NM_001354906.2:c.2101G>T	NP_001341835.1:p.Glu701Ter