Canonical Allele Identifier: CA16030245

Gene: APC

Linked Data

• ClinVar Variation Id: 486783
• ClinVar RCV Id: RCV000575615 ; RCV001775902 ; RCV003335524
• dbSNP Id: rs1554085480
• COSMIC: COSM18779
• MyVariant Identifiers: chr5:g.112175358C>G (hg19) ; chr5:g.112839661C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112839661C>G , CM000667.2:g.112839661C>G	GRCh38
NC_000005.9:g.112175358C>G , CM000667.1:g.112175358C>G	GRCh37
NC_000005.8:g.112203257C>G	NCBI36
NG_008481.4:g.152141C>G , LRG_130:g.152141C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502371.3:c.3732C>G	ENSP00000484935.2:n.3732C>G
ENST00000504915.3:c.4121C>G	ENSP00000473355.2:p.Ser1374Ter
ENST00000505350.2:c.*4073C>G	ENSP00000481752.1:n.*4073C>G
ENST00000507379.6:c.4013C>G	ENSP00000423224.2:p.Ser1338Ter
ENST00000509732.6:c.4067C>G	ENSP00000426541.2:p.Ser1356Ter
ENST00000512211.7:c.4067C>G	ENSP00000423828.3:p.Ser1356Ter
ENST00000257430.9:c.4067C>G MANE Select	ENSP00000257430.4:p.Ser1356Ter
ENST00000257430.8:c.4067C>G	ENSP00000257430.4:p.Ser1356Ter
ENST00000502371.2:c.2420C>G
ENST00000508376.6:c.4067C>G	ENSP00000427089.2:p.Ser1356Ter
ENST00000508624.5:c.*3389C>G	ENSP00000424265.1:n.*3389C>G
ENST00000520401.1:c.230+10689C>G
NM_000038.5:c.4067C>G	NP_000029.2:p.Ser1356Ter
NM_001127510.2:c.4067C>G	NP_001120982.1:p.Ser1356Ter
NM_001127511.2:c.4013C>G	NP_001120983.2:p.Ser1338Ter
NM_001354895.1:c.4067C>G	NP_001341824.1:p.Ser1356Ter
NM_001354896.1:c.4121C>G	NP_001341825.1:p.Ser1374Ter
NM_001354897.1:c.4097C>G	NP_001341826.1:p.Ser1366Ter
NM_001354898.1:c.3992C>G	NP_001341827.1:p.Ser1331Ter
NM_001354899.1:c.3983C>G	NP_001341828.1:p.Ser1328Ter
NM_001354900.1:c.3944C>G	NP_001341829.1:p.Ser1315Ter
NM_001354901.1:c.3890C>G	NP_001341830.1:p.Ser1297Ter
NM_001354902.1:c.3794C>G	NP_001341831.1:p.Ser1265Ter
NM_001354903.1:c.3764C>G	NP_001341832.1:p.Ser1255Ter
NM_001354904.1:c.3689C>G	NP_001341833.1:p.Ser1230Ter
NM_001354905.1:c.3587C>G	NP_001341834.1:p.Ser1196Ter
NM_001354906.1:c.3218C>G	NP_001341835.1:p.Ser1073Ter
NM_000038.6:c.4067C>G MANE Select	NP_000029.2:p.Ser1356Ter
NM_001127510.3:c.4067C>G	NP_001120982.1:p.Ser1356Ter
NM_001127511.3:c.4013C>G	NP_001120983.2:p.Ser1338Ter
NM_001354895.2:c.4067C>G	NP_001341824.1:p.Ser1356Ter
NM_001354896.2:c.4121C>G	NP_001341825.1:p.Ser1374Ter
NM_001354897.2:c.4097C>G	NP_001341826.1:p.Ser1366Ter
NM_001354898.2:c.3992C>G	NP_001341827.1:p.Ser1331Ter
NM_001354899.2:c.3983C>G	NP_001341828.1:p.Ser1328Ter
NM_001354900.2:c.3944C>G	NP_001341829.1:p.Ser1315Ter
NM_001354901.2:c.3890C>G	NP_001341830.1:p.Ser1297Ter
NM_001354902.2:c.3794C>G	NP_001341831.1:p.Ser1265Ter
NM_001354903.2:c.3764C>G	NP_001341832.1:p.Ser1255Ter
NM_001354904.2:c.3689C>G	NP_001341833.1:p.Ser1230Ter
NM_001354905.2:c.3587C>G	NP_001341834.1:p.Ser1196Ter
NM_001354906.2:c.3218C>G	NP_001341835.1:p.Ser1073Ter