Canonical Allele Identifier: CA16028617

Gene: APC

Linked Data

• ClinVar Variation Id: 849086
• ClinVar RCV Id: RCV001525516 ; RCV002553302 ; RCV003649334
• dbSNP Id: rs1765393874
• COSMIC: COSM268675
• MyVariant Identifiers: chr5:g.112174611C>T (hg19) ; chr5:g.112838914C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112838914C>T , CM000667.2:g.112838914C>T	GRCh38
NC_000005.9:g.112174611C>T , CM000667.1:g.112174611C>T	GRCh37
NC_000005.8:g.112202510C>T	NCBI36
NG_008481.4:g.151394C>T , LRG_130:g.151394C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502371.3:c.2985C>T	ENSP00000484935.2:n.2985C>T
ENST00000504915.3:c.3374C>T	ENSP00000473355.2:p.Ala1125Val
ENST00000505350.2:c.*3326C>T	ENSP00000481752.1:n.*3326C>T
ENST00000507379.6:c.3266C>T	ENSP00000423224.2:p.Ala1089Val
ENST00000509732.6:c.3320C>T	ENSP00000426541.2:p.Ala1107Val
ENST00000512211.7:c.3320C>T	ENSP00000423828.3:p.Ala1107Val
ENST00000257430.9:c.3320C>T MANE Select	ENSP00000257430.4:p.Ala1107Val
ENST00000257430.8:c.3320C>T	ENSP00000257430.4:p.Ala1107Val
ENST00000502371.2:c.1673C>T
ENST00000507379.5:c.3266C>T	ENSP00000423224.1:p.Ala1089Val
ENST00000508376.6:c.3320C>T	ENSP00000427089.2:p.Ala1107Val
ENST00000508624.5:c.*2642C>T	ENSP00000424265.1:n.*2642C>T
ENST00000512211.6:c.3320C>T	ENSP00000423828.2:p.Ala1107Val
ENST00000520401.1:c.230+9942C>T
NM_000038.5:c.3320C>T	NP_000029.2:p.Ala1107Val
NM_001127510.2:c.3320C>T	NP_001120982.1:p.Ala1107Val
NM_001127511.2:c.3266C>T	NP_001120983.2:p.Ala1089Val
NM_001354895.1:c.3320C>T	NP_001341824.1:p.Ala1107Val
NM_001354896.1:c.3374C>T	NP_001341825.1:p.Ala1125Val
NM_001354897.1:c.3350C>T	NP_001341826.1:p.Ala1117Val
NM_001354898.1:c.3245C>T	NP_001341827.1:p.Ala1082Val
NM_001354899.1:c.3236C>T	NP_001341828.1:p.Ala1079Val
NM_001354900.1:c.3197C>T	NP_001341829.1:p.Ala1066Val
NM_001354901.1:c.3143C>T	NP_001341830.1:p.Ala1048Val
NM_001354902.1:c.3047C>T	NP_001341831.1:p.Ala1016Val
NM_001354903.1:c.3017C>T	NP_001341832.1:p.Ala1006Val
NM_001354904.1:c.2942C>T	NP_001341833.1:p.Ala981Val
NM_001354905.1:c.2840C>T	NP_001341834.1:p.Ala947Val
NM_001354906.1:c.2471C>T	NP_001341835.1:p.Ala824Val
NM_000038.6:c.3320C>T MANE Select	NP_000029.2:p.Ala1107Val
NM_001127510.3:c.3320C>T	NP_001120982.1:p.Ala1107Val
NM_001127511.3:c.3266C>T	NP_001120983.2:p.Ala1089Val
NM_001354895.2:c.3320C>T	NP_001341824.1:p.Ala1107Val
NM_001354896.2:c.3374C>T	NP_001341825.1:p.Ala1125Val
NM_001354897.2:c.3350C>T	NP_001341826.1:p.Ala1117Val
NM_001354898.2:c.3245C>T	NP_001341827.1:p.Ala1082Val
NM_001354899.2:c.3236C>T	NP_001341828.1:p.Ala1079Val
NM_001354900.2:c.3197C>T	NP_001341829.1:p.Ala1066Val
NM_001354901.2:c.3143C>T	NP_001341830.1:p.Ala1048Val
NM_001354902.2:c.3047C>T	NP_001341831.1:p.Ala1016Val
NM_001354903.2:c.3017C>T	NP_001341832.1:p.Ala1006Val
NM_001354904.2:c.2942C>T	NP_001341833.1:p.Ala981Val
NM_001354905.2:c.2840C>T	NP_001341834.1:p.Ala947Val
NM_001354906.2:c.2471C>T	NP_001341835.1:p.Ala824Val