Canonical Allele Identifier: CA16029922

Gene: APC

Linked Data

• ClinVar Variation Id: 2774987
• ClinVar RCV Id: RCV003585045
• dbSNP Id: rs1554085389
• MyVariant Identifiers: chr5:g.112175205C>T (hg19) ; chr5:g.112839508C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112839508C>T , CM000667.2:g.112839508C>T	GRCh38
NC_000005.9:g.112175205C>T , CM000667.1:g.112175205C>T	GRCh37
NC_000005.8:g.112203104C>T	NCBI36
NG_008481.4:g.151988C>T , LRG_130:g.151988C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502371.3:c.3579C>T	ENSP00000484935.2:n.3579C>T
ENST00000504915.3:c.3968C>T	ENSP00000473355.2:p.Ala1323Val
ENST00000505350.2:c.*3920C>T	ENSP00000481752.1:n.*3920C>T
ENST00000507379.6:c.3860C>T	ENSP00000423224.2:p.Ala1287Val
ENST00000509732.6:c.3914C>T	ENSP00000426541.2:p.Ala1305Val
ENST00000512211.7:c.3914C>T	ENSP00000423828.3:p.Ala1305Val
ENST00000257430.9:c.3914C>T MANE Select	ENSP00000257430.4:p.Ala1305Val
ENST00000257430.8:c.3914C>T	ENSP00000257430.4:p.Ala1305Val
ENST00000502371.2:c.2267C>T
ENST00000508376.6:c.3914C>T	ENSP00000427089.2:p.Ala1305Val
ENST00000508624.5:c.*3236C>T	ENSP00000424265.1:n.*3236C>T
ENST00000512211.6:c.3914C>T
ENST00000520401.1:c.230+10536C>T
NM_000038.5:c.3914C>T	NP_000029.2:p.Ala1305Val
NM_001127510.2:c.3914C>T	NP_001120982.1:p.Ala1305Val
NM_001127511.2:c.3860C>T	NP_001120983.2:p.Ala1287Val
NM_001354895.1:c.3914C>T	NP_001341824.1:p.Ala1305Val
NM_001354896.1:c.3968C>T	NP_001341825.1:p.Ala1323Val
NM_001354897.1:c.3944C>T	NP_001341826.1:p.Ala1315Val
NM_001354898.1:c.3839C>T	NP_001341827.1:p.Ala1280Val
NM_001354899.1:c.3830C>T	NP_001341828.1:p.Ala1277Val
NM_001354900.1:c.3791C>T	NP_001341829.1:p.Ala1264Val
NM_001354901.1:c.3737C>T	NP_001341830.1:p.Ala1246Val
NM_001354902.1:c.3641C>T	NP_001341831.1:p.Ala1214Val
NM_001354903.1:c.3611C>T	NP_001341832.1:p.Ala1204Val
NM_001354904.1:c.3536C>T	NP_001341833.1:p.Ala1179Val
NM_001354905.1:c.3434C>T	NP_001341834.1:p.Ala1145Val
NM_001354906.1:c.3065C>T	NP_001341835.1:p.Ala1022Val
NM_000038.6:c.3914C>T MANE Select	NP_000029.2:p.Ala1305Val
NM_001127510.3:c.3914C>T	NP_001120982.1:p.Ala1305Val
NM_001127511.3:c.3860C>T	NP_001120983.2:p.Ala1287Val
NM_001354895.2:c.3914C>T	NP_001341824.1:p.Ala1305Val
NM_001354896.2:c.3968C>T	NP_001341825.1:p.Ala1323Val
NM_001354897.2:c.3944C>T	NP_001341826.1:p.Ala1315Val
NM_001354898.2:c.3839C>T	NP_001341827.1:p.Ala1280Val
NM_001354899.2:c.3830C>T	NP_001341828.1:p.Ala1277Val
NM_001354900.2:c.3791C>T	NP_001341829.1:p.Ala1264Val
NM_001354901.2:c.3737C>T	NP_001341830.1:p.Ala1246Val
NM_001354902.2:c.3641C>T	NP_001341831.1:p.Ala1214Val
NM_001354903.2:c.3611C>T	NP_001341832.1:p.Ala1204Val
NM_001354904.2:c.3536C>T	NP_001341833.1:p.Ala1179Val
NM_001354905.2:c.3434C>T	NP_001341834.1:p.Ala1145Val
NM_001354906.2:c.3065C>T	NP_001341835.1:p.Ala1022Val