Canonical Allele Identifier: CA16030059

Gene: APC

Linked Data

• ClinVar Variation Id: 469943
• ClinVar RCV Id: RCV003335470 ; RCV003742696
• dbSNP Id: rs1554085429
• COSMIC: COSM18858
• MyVariant Identifiers: chr5:g.112175271C>G (hg19) ; chr5:g.112839574C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112839574C>G , CM000667.2:g.112839574C>G	GRCh38
NC_000005.9:g.112175271C>G , CM000667.1:g.112175271C>G	GRCh37
NC_000005.8:g.112203170C>G	NCBI36
NG_008481.4:g.152054C>G , LRG_130:g.152054C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502371.3:c.3645C>G	ENSP00000484935.2:n.3645C>G
ENST00000504915.3:c.4034C>G	ENSP00000473355.2:p.Ser1345Ter
ENST00000505350.2:c.*3986C>G	ENSP00000481752.1:n.*3986C>G
ENST00000507379.6:c.3926C>G	ENSP00000423224.2:p.Ser1309Ter
ENST00000509732.6:c.3980C>G	ENSP00000426541.2:p.Ser1327Ter
ENST00000512211.7:c.3980C>G	ENSP00000423828.3:p.Ser1327Ter
ENST00000257430.9:c.3980C>G MANE Select	ENSP00000257430.4:p.Ser1327Ter
ENST00000257430.8:c.3980C>G	ENSP00000257430.4:p.Ser1327Ter
ENST00000502371.2:c.2333C>G
ENST00000508376.6:c.3980C>G	ENSP00000427089.2:p.Ser1327Ter
ENST00000508624.5:c.*3302C>G	ENSP00000424265.1:n.*3302C>G
ENST00000520401.1:c.230+10602C>G
NM_000038.5:c.3980C>G	NP_000029.2:p.Ser1327Ter
NM_001127510.2:c.3980C>G	NP_001120982.1:p.Ser1327Ter
NM_001127511.2:c.3926C>G	NP_001120983.2:p.Ser1309Ter
NM_001354895.1:c.3980C>G	NP_001341824.1:p.Ser1327Ter
NM_001354896.1:c.4034C>G	NP_001341825.1:p.Ser1345Ter
NM_001354897.1:c.4010C>G	NP_001341826.1:p.Ser1337Ter
NM_001354898.1:c.3905C>G	NP_001341827.1:p.Ser1302Ter
NM_001354899.1:c.3896C>G	NP_001341828.1:p.Ser1299Ter
NM_001354900.1:c.3857C>G	NP_001341829.1:p.Ser1286Ter
NM_001354901.1:c.3803C>G	NP_001341830.1:p.Ser1268Ter
NM_001354902.1:c.3707C>G	NP_001341831.1:p.Ser1236Ter
NM_001354903.1:c.3677C>G	NP_001341832.1:p.Ser1226Ter
NM_001354904.1:c.3602C>G	NP_001341833.1:p.Ser1201Ter
NM_001354905.1:c.3500C>G	NP_001341834.1:p.Ser1167Ter
NM_001354906.1:c.3131C>G	NP_001341835.1:p.Ser1044Ter
NM_000038.6:c.3980C>G MANE Select	NP_000029.2:p.Ser1327Ter
NM_001127510.3:c.3980C>G	NP_001120982.1:p.Ser1327Ter
NM_001127511.3:c.3926C>G	NP_001120983.2:p.Ser1309Ter
NM_001354895.2:c.3980C>G	NP_001341824.1:p.Ser1327Ter
NM_001354896.2:c.4034C>G	NP_001341825.1:p.Ser1345Ter
NM_001354897.2:c.4010C>G	NP_001341826.1:p.Ser1337Ter
NM_001354898.2:c.3905C>G	NP_001341827.1:p.Ser1302Ter
NM_001354899.2:c.3896C>G	NP_001341828.1:p.Ser1299Ter
NM_001354900.2:c.3857C>G	NP_001341829.1:p.Ser1286Ter
NM_001354901.2:c.3803C>G	NP_001341830.1:p.Ser1268Ter
NM_001354902.2:c.3707C>G	NP_001341831.1:p.Ser1236Ter
NM_001354903.2:c.3677C>G	NP_001341832.1:p.Ser1226Ter
NM_001354904.2:c.3602C>G	NP_001341833.1:p.Ser1201Ter
NM_001354905.2:c.3500C>G	NP_001341834.1:p.Ser1167Ter
NM_001354906.2:c.3131C>G	NP_001341835.1:p.Ser1044Ter