Canonical Allele Identifier: CA16032274

Gene: APC

Linked Data

• ClinVar Variation Id: 429050
• ClinVar RCV Id: RCV000494666 ; RCV004003476 ; RCV003766766
• dbSNP Id: rs1131691138
• gnomAD v4: 5-112840595-T-A
• MyVariant Identifiers: chr5:g.112176292T>A (hg19) ; chr5:g.112840595T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112840595T>A , CM000667.2:g.112840595T>A	GRCh38
NC_000005.9:g.112176292T>A , CM000667.1:g.112176292T>A	GRCh37
NC_000005.8:g.112204191T>A	NCBI36
NG_008481.4:g.153075T>A , LRG_130:g.153075T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.5055T>A	ENSP00000473355.2:p.Asn1685Lys
ENST00000505350.2:c.*5007T>A	ENSP00000481752.1:n.*5007T>A
ENST00000507379.6:c.4947T>A	ENSP00000423224.2:p.Asn1649Lys
ENST00000509732.6:c.5001T>A	ENSP00000426541.2:p.Asn1667Lys
ENST00000512211.7:c.5001T>A	ENSP00000423828.3:p.Asn1667Lys
ENST00000257430.9:c.5001T>A MANE Select	ENSP00000257430.4:p.Asn1667Lys
ENST00000257430.8:c.5001T>A	ENSP00000257430.4:p.Asn1667Lys
ENST00000508376.6:c.5001T>A	ENSP00000427089.2:p.Asn1667Lys
ENST00000508624.5:c.*4323T>A	ENSP00000424265.1:n.*4323T>A
ENST00000520401.1:c.230+11623T>A
NM_000038.5:c.5001T>A	NP_000029.2:p.Asn1667Lys
NM_001127510.2:c.5001T>A	NP_001120982.1:p.Asn1667Lys
NM_001127511.2:c.4947T>A	NP_001120983.2:p.Asn1649Lys
NM_001354895.1:c.5001T>A	NP_001341824.1:p.Asn1667Lys
NM_001354896.1:c.5055T>A	NP_001341825.1:p.Asn1685Lys
NM_001354897.1:c.5031T>A	NP_001341826.1:p.Asn1677Lys
NM_001354898.1:c.4926T>A	NP_001341827.1:p.Asn1642Lys
NM_001354899.1:c.4917T>A	NP_001341828.1:p.Asn1639Lys
NM_001354900.1:c.4878T>A	NP_001341829.1:p.Asn1626Lys
NM_001354901.1:c.4824T>A	NP_001341830.1:p.Asn1608Lys
NM_001354902.1:c.4728T>A	NP_001341831.1:p.Asn1576Lys
NM_001354903.1:c.4698T>A	NP_001341832.1:p.Asn1566Lys
NM_001354904.1:c.4623T>A	NP_001341833.1:p.Asn1541Lys
NM_001354905.1:c.4521T>A	NP_001341834.1:p.Asn1507Lys
NM_001354906.1:c.4152T>A	NP_001341835.1:p.Asn1384Lys
NM_000038.6:c.5001T>A MANE Select	NP_000029.2:p.Asn1667Lys
NM_001127510.3:c.5001T>A	NP_001120982.1:p.Asn1667Lys
NM_001127511.3:c.4947T>A	NP_001120983.2:p.Asn1649Lys
NM_001354895.2:c.5001T>A	NP_001341824.1:p.Asn1667Lys
NM_001354896.2:c.5055T>A	NP_001341825.1:p.Asn1685Lys
NM_001354897.2:c.5031T>A	NP_001341826.1:p.Asn1677Lys
NM_001354898.2:c.4926T>A	NP_001341827.1:p.Asn1642Lys
NM_001354899.2:c.4917T>A	NP_001341828.1:p.Asn1639Lys
NM_001354900.2:c.4878T>A	NP_001341829.1:p.Asn1626Lys
NM_001354901.2:c.4824T>A	NP_001341830.1:p.Asn1608Lys
NM_001354902.2:c.4728T>A	NP_001341831.1:p.Asn1576Lys
NM_001354903.2:c.4698T>A	NP_001341832.1:p.Asn1566Lys
NM_001354904.2:c.4623T>A	NP_001341833.1:p.Asn1541Lys
NM_001354905.2:c.4521T>A	NP_001341834.1:p.Asn1507Lys
NM_001354906.2:c.4152T>A	NP_001341835.1:p.Asn1384Lys