Canonical Allele Identifier: CA446210461

Gene: APC

Linked Data

• ClinVar Variation Id: 925770
• ClinVar RCV Id: RCV001187926 ; RCV003326549
• dbSNP Id: rs1766330352
• MyVariant Identifiers: chr5:g.112178197A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112842500A>C , CM000667.2:g.112842500A>C	GRCh38
NC_000005.9:g.112178197A>C , CM000667.1:g.112178197A>C	GRCh37
NC_000005.8:g.112206096A>C	NCBI36
NG_008481.4:g.154980A>C , LRG_130:g.154980A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.6960A>C	ENSP00000473355.2:p.Ser2320=
ENST00000505350.2:c.*6912A>C	ENSP00000481752.1:n.*6912A>C
ENST00000507379.6:c.6852A>C	ENSP00000423224.2:p.Ser2284=
ENST00000509732.6:c.6906A>C	ENSP00000426541.2:p.Ser2302=
ENST00000512211.7:c.6906A>C	ENSP00000423828.3:p.Ser2302=
ENST00000257430.9:c.6906A>C MANE Select	ENSP00000257430.4:p.Ser2302=
ENST00000257430.8:c.6906A>C	ENSP00000257430.4:p.Ser2302=
ENST00000508376.6:c.6906A>C	ENSP00000427089.2:p.Ser2302=
ENST00000508624.5:c.*6228A>C	ENSP00000424265.1:n.*6228A>C
ENST00000520401.1:c.230+13528A>C
NM_000038.5:c.6906A>C	NP_000029.2:p.Ser2302=
NM_001127510.2:c.6906A>C	NP_001120982.1:p.Ser2302=
NM_001127511.2:c.6852A>C	NP_001120983.2:p.Ser2284=
NM_001354895.1:c.6906A>C	NP_001341824.1:p.Ser2302=
NM_001354896.1:c.6960A>C	NP_001341825.1:p.Ser2320=
NM_001354897.1:c.6936A>C	NP_001341826.1:p.Ser2312=
NM_001354898.1:c.6831A>C	NP_001341827.1:p.Ser2277=
NM_001354899.1:c.6822A>C	NP_001341828.1:p.Ser2274=
NM_001354900.1:c.6783A>C	NP_001341829.1:p.Ser2261=
NM_001354901.1:c.6729A>C	NP_001341830.1:p.Ser2243=
NM_001354902.1:c.6633A>C	NP_001341831.1:p.Ser2211=
NM_001354903.1:c.6603A>C	NP_001341832.1:p.Ser2201=
NM_001354904.1:c.6528A>C	NP_001341833.1:p.Ser2176=
NM_001354905.1:c.6426A>C	NP_001341834.1:p.Ser2142=
NM_001354906.1:c.6057A>C	NP_001341835.1:p.Ser2019=
NM_000038.6:c.6906A>C MANE Select	NP_000029.2:p.Ser2302=
NM_001127510.3:c.6906A>C	NP_001120982.1:p.Ser2302=
NM_001127511.3:c.6852A>C	NP_001120983.2:p.Ser2284=
NM_001354895.2:c.6906A>C	NP_001341824.1:p.Ser2302=
NM_001354896.2:c.6960A>C	NP_001341825.1:p.Ser2320=
NM_001354897.2:c.6936A>C	NP_001341826.1:p.Ser2312=
NM_001354898.2:c.6831A>C	NP_001341827.1:p.Ser2277=
NM_001354899.2:c.6822A>C	NP_001341828.1:p.Ser2274=
NM_001354900.2:c.6783A>C	NP_001341829.1:p.Ser2261=
NM_001354901.2:c.6729A>C	NP_001341830.1:p.Ser2243=
NM_001354902.2:c.6633A>C	NP_001341831.1:p.Ser2211=
NM_001354903.2:c.6603A>C	NP_001341832.1:p.Ser2201=
NM_001354904.2:c.6528A>C	NP_001341833.1:p.Ser2176=
NM_001354905.2:c.6426A>C	NP_001341834.1:p.Ser2142=
NM_001354906.2:c.6057A>C	NP_001341835.1:p.Ser2019=