Canonical Allele Identifier: CA16036550

Gene: APC

Linked Data

• ClinVar Variation Id: 1320686
• ClinVar RCV Id: RCV001776665 ; RCV003772115
• dbSNP Id: rs950286984
• MyVariant Identifiers: chr5:g.112178272C>A (hg19) ; chr5:g.112842575C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112842575C>A , CM000667.2:g.112842575C>A	GRCh38
NC_000005.9:g.112178272C>A , CM000667.1:g.112178272C>A	GRCh37
NC_000005.8:g.112206171C>A	NCBI36
NG_008481.4:g.155055C>A , LRG_130:g.155055C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.7035C>A	ENSP00000473355.2:p.Asn2345Lys
ENST00000505350.2:c.*6987C>A	ENSP00000481752.1:n.*6987C>A
ENST00000507379.6:c.6927C>A	ENSP00000423224.2:p.Asn2309Lys
ENST00000509732.6:c.6981C>A	ENSP00000426541.2:p.Asn2327Lys
ENST00000512211.7:c.6981C>A	ENSP00000423828.3:p.Asn2327Lys
ENST00000257430.9:c.6981C>A MANE Select	ENSP00000257430.4:p.Asn2327Lys
ENST00000257430.8:c.6981C>A	ENSP00000257430.4:p.Asn2327Lys
ENST00000508376.6:c.6981C>A	ENSP00000427089.2:p.Asn2327Lys
ENST00000508624.5:c.*6303C>A	ENSP00000424265.1:n.*6303C>A
ENST00000520401.1:c.230+13603C>A
NM_000038.5:c.6981C>A	NP_000029.2:p.Asn2327Lys
NM_001127510.2:c.6981C>A	NP_001120982.1:p.Asn2327Lys
NM_001127511.2:c.6927C>A	NP_001120983.2:p.Asn2309Lys
NM_001354895.1:c.6981C>A	NP_001341824.1:p.Asn2327Lys
NM_001354896.1:c.7035C>A	NP_001341825.1:p.Asn2345Lys
NM_001354897.1:c.7011C>A	NP_001341826.1:p.Asn2337Lys
NM_001354898.1:c.6906C>A	NP_001341827.1:p.Asn2302Lys
NM_001354899.1:c.6897C>A	NP_001341828.1:p.Asn2299Lys
NM_001354900.1:c.6858C>A	NP_001341829.1:p.Asn2286Lys
NM_001354901.1:c.6804C>A	NP_001341830.1:p.Asn2268Lys
NM_001354902.1:c.6708C>A	NP_001341831.1:p.Asn2236Lys
NM_001354903.1:c.6678C>A	NP_001341832.1:p.Asn2226Lys
NM_001354904.1:c.6603C>A	NP_001341833.1:p.Asn2201Lys
NM_001354905.1:c.6501C>A	NP_001341834.1:p.Asn2167Lys
NM_001354906.1:c.6132C>A	NP_001341835.1:p.Asn2044Lys
NM_000038.6:c.6981C>A MANE Select	NP_000029.2:p.Asn2327Lys
NM_001127510.3:c.6981C>A	NP_001120982.1:p.Asn2327Lys
NM_001127511.3:c.6927C>A	NP_001120983.2:p.Asn2309Lys
NM_001354895.2:c.6981C>A	NP_001341824.1:p.Asn2327Lys
NM_001354896.2:c.7035C>A	NP_001341825.1:p.Asn2345Lys
NM_001354897.2:c.7011C>A	NP_001341826.1:p.Asn2337Lys
NM_001354898.2:c.6906C>A	NP_001341827.1:p.Asn2302Lys
NM_001354899.2:c.6897C>A	NP_001341828.1:p.Asn2299Lys
NM_001354900.2:c.6858C>A	NP_001341829.1:p.Asn2286Lys
NM_001354901.2:c.6804C>A	NP_001341830.1:p.Asn2268Lys
NM_001354902.2:c.6708C>A	NP_001341831.1:p.Asn2236Lys
NM_001354903.2:c.6678C>A	NP_001341832.1:p.Asn2226Lys
NM_001354904.2:c.6603C>A	NP_001341833.1:p.Asn2201Lys
NM_001354905.2:c.6501C>A	NP_001341834.1:p.Asn2167Lys
NM_001354906.2:c.6132C>A	NP_001341835.1:p.Asn2044Lys