Canonical Allele Identifier: CA16026188

Gene: APC

Linked Data

• ClinVar Variation Id: 1787835
• ClinVar RCV Id: RCV002425928 ; RCV003742825
• MyVariant Identifiers: chr5:g.112173507A>C (hg19) ; chr5:g.112837810A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112837810A>C , CM000667.2:g.112837810A>C	GRCh38
NC_000005.9:g.112173507A>C , CM000667.1:g.112173507A>C	GRCh37
NC_000005.8:g.112201406A>C	NCBI36
NG_008481.4:g.150290A>C , LRG_130:g.150290A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000502371.3:c.1881A>C	ENSP00000484935.2:n.1881A>C
ENST00000504915.3:c.2270A>C	ENSP00000473355.2:p.Asp757Ala
ENST00000505350.2:c.*2222A>C	ENSP00000481752.1:n.*2222A>C
ENST00000507379.6:c.2162A>C	ENSP00000423224.2:p.Asp721Ala
ENST00000509732.6:c.2216A>C	ENSP00000426541.2:p.Asp739Ala
ENST00000512211.7:c.2216A>C	ENSP00000423828.3:p.Asp739Ala
ENST00000257430.9:c.2216A>C MANE Select	ENSP00000257430.4:p.Asp739Ala
ENST00000257430.8:c.2216A>C	ENSP00000257430.4:p.Asp739Ala
ENST00000502371.2:c.569A>C
ENST00000507379.5:c.2162A>C	ENSP00000423224.1:p.Asp721Ala
ENST00000508376.6:c.2216A>C	ENSP00000427089.2:p.Asp739Ala
ENST00000508624.5:c.*1538A>C	ENSP00000424265.1:n.*1538A>C
ENST00000512211.6:c.2216A>C	ENSP00000423828.2:p.Asp739Ala
ENST00000520401.1:c.230+8838A>C
NM_000038.5:c.2216A>C	NP_000029.2:p.Asp739Ala
NM_001127510.2:c.2216A>C	NP_001120982.1:p.Asp739Ala
NM_001127511.2:c.2162A>C	NP_001120983.2:p.Asp721Ala
NM_001354895.1:c.2216A>C	NP_001341824.1:p.Asp739Ala
NM_001354896.1:c.2270A>C	NP_001341825.1:p.Asp757Ala
NM_001354897.1:c.2246A>C	NP_001341826.1:p.Asp749Ala
NM_001354898.1:c.2141A>C	NP_001341827.1:p.Asp714Ala
NM_001354899.1:c.2132A>C	NP_001341828.1:p.Asp711Ala
NM_001354900.1:c.2093A>C	NP_001341829.1:p.Asp698Ala
NM_001354901.1:c.2039A>C	NP_001341830.1:p.Asp680Ala
NM_001354902.1:c.1943A>C	NP_001341831.1:p.Asp648Ala
NM_001354903.1:c.1913A>C	NP_001341832.1:p.Asp638Ala
NM_001354904.1:c.1838A>C	NP_001341833.1:p.Asp613Ala
NM_001354905.1:c.1736A>C	NP_001341834.1:p.Asp579Ala
NM_001354906.1:c.1367A>C	NP_001341835.1:p.Asp456Ala
NM_000038.6:c.2216A>C MANE Select	NP_000029.2:p.Asp739Ala
NM_001127510.3:c.2216A>C	NP_001120982.1:p.Asp739Ala
NM_001127511.3:c.2162A>C	NP_001120983.2:p.Asp721Ala
NM_001354895.2:c.2216A>C	NP_001341824.1:p.Asp739Ala
NM_001354896.2:c.2270A>C	NP_001341825.1:p.Asp757Ala
NM_001354897.2:c.2246A>C	NP_001341826.1:p.Asp749Ala
NM_001354898.2:c.2141A>C	NP_001341827.1:p.Asp714Ala
NM_001354899.2:c.2132A>C	NP_001341828.1:p.Asp711Ala
NM_001354900.2:c.2093A>C	NP_001341829.1:p.Asp698Ala
NM_001354901.2:c.2039A>C	NP_001341830.1:p.Asp680Ala
NM_001354902.2:c.1943A>C	NP_001341831.1:p.Asp648Ala
NM_001354903.2:c.1913A>C	NP_001341832.1:p.Asp638Ala
NM_001354904.2:c.1838A>C	NP_001341833.1:p.Asp613Ala
NM_001354905.2:c.1736A>C	NP_001341834.1:p.Asp579Ala
NM_001354906.2:c.1367A>C	NP_001341835.1:p.Asp456Ala