Canonical Allele Identifier: CA16024206

Gene: APC

Linked Data

• ClinVar Variation Id: 818937
• ClinVar RCV Id: RCV001011040 ; RCV004004495 ; RCV003744690
• dbSNP Id: rs1580541876
• MyVariant Identifiers: chr5:g.112157605T>A (hg19) ; chr5:g.112821908T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112821908T>A , CM000667.2:g.112821908T>A	GRCh38
NC_000005.9:g.112157605T>A , CM000667.1:g.112157605T>A	GRCh37
NC_000005.8:g.112185504T>A	NCBI36
NG_008481.4:g.134388T>A , LRG_130:g.134388T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502371.3:c.1325T>A	ENSP00000484935.2:p.Val442Asp
ENST00000504915.3:c.1325T>A	ENSP00000473355.2:p.Val442Asp
ENST00000505084.2:n.1381T>A
ENST00000505350.2:c.*1331T>A	ENSP00000481752.1:n.*1331T>A
ENST00000507379.6:c.1271T>A	ENSP00000423224.2:p.Val424Asp
ENST00000509732.6:c.1325T>A	ENSP00000426541.2:p.Val442Asp
ENST00000512211.7:c.1325T>A	ENSP00000423828.3:p.Val442Asp
ENST00000257430.9:c.1325T>A MANE Select	ENSP00000257430.4:p.Val442Asp
ENST00000257430.8:c.1325T>A	ENSP00000257430.4:p.Val442Asp
ENST00000502371.2:c.13T>A
ENST00000507379.5:c.1271T>A	ENSP00000423224.1:p.Val424Asp
ENST00000508376.6:c.1325T>A	ENSP00000427089.2:p.Val442Asp
ENST00000508624.5:c.*647T>A	ENSP00000424265.1:n.*647T>A
ENST00000512211.6:c.1325T>A	ENSP00000423828.2:p.Val442Asp
NM_000038.5:c.1325T>A	NP_000029.2:p.Val442Asp
NM_001127510.2:c.1325T>A	NP_001120982.1:p.Val442Asp
NM_001127511.2:c.1271T>A	NP_001120983.2:p.Val424Asp
NM_001354895.1:c.1325T>A	NP_001341824.1:p.Val442Asp
NM_001354896.1:c.1325T>A	NP_001341825.1:p.Val442Asp
NM_001354897.1:c.1355T>A	NP_001341826.1:p.Val452Asp
NM_001354898.1:c.1250T>A	NP_001341827.1:p.Val417Asp
NM_001354899.1:c.1241T>A	NP_001341828.1:p.Val414Asp
NM_001354900.1:c.1148T>A	NP_001341829.1:p.Val383Asp
NM_001354901.1:c.1148T>A	NP_001341830.1:p.Val383Asp
NM_001354902.1:c.1052T>A	NP_001341831.1:p.Val351Asp
NM_001354903.1:c.1022T>A	NP_001341832.1:p.Val341Asp
NM_001354904.1:c.947T>A	NP_001341833.1:p.Val316Asp
NM_001354905.1:c.845T>A	NP_001341834.1:p.Val282Asp
NM_001354906.1:c.476T>A	NP_001341835.1:p.Val159Asp
NM_000038.6:c.1325T>A MANE Select	NP_000029.2:p.Val442Asp
NM_001127510.3:c.1325T>A	NP_001120982.1:p.Val442Asp
NM_001127511.3:c.1271T>A	NP_001120983.2:p.Val424Asp
NM_001354895.2:c.1325T>A	NP_001341824.1:p.Val442Asp
NM_001354896.2:c.1325T>A	NP_001341825.1:p.Val442Asp
NM_001354897.2:c.1355T>A	NP_001341826.1:p.Val452Asp
NM_001354898.2:c.1250T>A	NP_001341827.1:p.Val417Asp
NM_001354899.2:c.1241T>A	NP_001341828.1:p.Val414Asp
NM_001354900.2:c.1148T>A	NP_001341829.1:p.Val383Asp
NM_001354901.2:c.1148T>A	NP_001341830.1:p.Val383Asp
NM_001354902.2:c.1052T>A	NP_001341831.1:p.Val351Asp
NM_001354903.2:c.1022T>A	NP_001341832.1:p.Val341Asp
NM_001354904.2:c.947T>A	NP_001341833.1:p.Val316Asp
NM_001354905.2:c.845T>A	NP_001341834.1:p.Val282Asp
NM_001354906.2:c.476T>A	NP_001341835.1:p.Val159Asp