Canonical Allele Identifier: CA10584241

Gene: APC

Linked Data

• ClinVar Variation Id: 246087
• ClinVar RCV Id: RCV000236999 ; RCV000491475 ; RCV000501897 ; RCV002519828 ; RCV003535657
• dbSNP Id: rs879254090
• MyVariant Identifiers: chr5:g.112162944G>C (hg19) ; chr5:g.112827247G>C (hg38)
• PubMed: PMID:8990002 ; PMID:15300853 ; PMID:15459959 ; PMID:17489848 ; PMID:19196998 ; PMID:20685668 ; PMID:21859464 ; PMID:22941256 ; PMID:27000756

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112827247G>C , CM000667.2:g.112827247G>C	GRCh38
NC_000005.9:g.112162944G>C , CM000667.1:g.112162944G>C	GRCh37
NC_000005.8:g.112190843G>C	NCBI36
NG_008481.4:g.139727G>C , LRG_130:g.139727G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502371.3:c.1408+5256G>C	ENSP00000484935.2:n.1408+5256G>C
ENST00000504915.3:c.1602G>C	ENSP00000473355.2:p.Lys534Asn
ENST00000505084.2:n.1604G>C
ENST00000505350.2:c.*1554G>C	ENSP00000481752.1:n.*1554G>C
ENST00000507379.6:c.1494G>C	ENSP00000423224.2:p.Lys498Asn
ENST00000509732.6:c.1548G>C	ENSP00000426541.2:p.Lys516Asn
ENST00000512211.7:c.1548G>C	ENSP00000423828.3:p.Lys516Asn
ENST00000257430.9:c.1548G>C MANE Select	ENSP00000257430.4:p.Lys516Asn
ENST00000257430.8:c.1548G>C	ENSP00000257430.4:p.Lys516Asn
ENST00000502371.2:c.96+5256G>C
ENST00000504915.2:c.237G>C	ENSP00000473355.1:p.Lys79Asn
ENST00000505084.1:n.35G>C
ENST00000507379.5:c.1494G>C	ENSP00000423224.1:p.Lys498Asn
ENST00000508376.6:c.1548G>C	ENSP00000427089.2:p.Lys516Asn
ENST00000508624.5:c.*870G>C	ENSP00000424265.1:n.*870G>C
ENST00000512211.6:c.1548G>C	ENSP00000423828.2:p.Lys516Asn
ENST00000520401.1:c.35G>C
NM_000038.5:c.1548G>C	NP_000029.2:p.Lys516Asn
NM_001127510.2:c.1548G>C	NP_001120982.1:p.Lys516Asn
NM_001127511.2:c.1494G>C	NP_001120983.2:p.Lys498Asn
NM_001354895.1:c.1548G>C	NP_001341824.1:p.Lys516Asn
NM_001354896.1:c.1602G>C	NP_001341825.1:p.Lys534Asn
NM_001354897.1:c.1578G>C	NP_001341826.1:p.Lys526Asn
NM_001354898.1:c.1473G>C	NP_001341827.1:p.Lys491Asn
NM_001354899.1:c.1464G>C	NP_001341828.1:p.Lys488Asn
NM_001354900.1:c.1425G>C	NP_001341829.1:p.Lys475Asn
NM_001354901.1:c.1371G>C	NP_001341830.1:p.Lys457Asn
NM_001354902.1:c.1275G>C	NP_001341831.1:p.Lys425Asn
NM_001354903.1:c.1245G>C	NP_001341832.1:p.Lys415Asn
NM_001354904.1:c.1170G>C	NP_001341833.1:p.Lys390Asn
NM_001354905.1:c.1068G>C	NP_001341834.1:p.Lys356Asn
NM_001354906.1:c.699G>C	NP_001341835.1:p.Lys233Asn
NM_000038.6:c.1548G>C MANE Select	NP_000029.2:p.Lys516Asn
NM_001127510.3:c.1548G>C	NP_001120982.1:p.Lys516Asn
NM_001127511.3:c.1494G>C	NP_001120983.2:p.Lys498Asn
NM_001354895.2:c.1548G>C	NP_001341824.1:p.Lys516Asn
NM_001354896.2:c.1602G>C	NP_001341825.1:p.Lys534Asn
NM_001354897.2:c.1578G>C	NP_001341826.1:p.Lys526Asn
NM_001354898.2:c.1473G>C	NP_001341827.1:p.Lys491Asn
NM_001354899.2:c.1464G>C	NP_001341828.1:p.Lys488Asn
NM_001354900.2:c.1425G>C	NP_001341829.1:p.Lys475Asn
NM_001354901.2:c.1371G>C	NP_001341830.1:p.Lys457Asn
NM_001354902.2:c.1275G>C	NP_001341831.1:p.Lys425Asn
NM_001354903.2:c.1245G>C	NP_001341832.1:p.Lys415Asn
NM_001354904.2:c.1170G>C	NP_001341833.1:p.Lys390Asn
NM_001354905.2:c.1068G>C	NP_001341834.1:p.Lys356Asn
NM_001354906.2:c.699G>C	NP_001341835.1:p.Lys233Asn