Canonical Allele Identifier: CA16036870

Gene: APC

Linked Data

• ClinVar Variation Id: 482437
• ClinVar RCV Id: RCV000563147 ; RCV003465215 ; RCV003652016
• dbSNP Id: rs1466505360
• MyVariant Identifiers: chr5:g.112178426A>C (hg19) ; chr5:g.112842729A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112842729A>C , CM000667.2:g.112842729A>C	GRCh38
NC_000005.9:g.112178426A>C , CM000667.1:g.112178426A>C	GRCh37
NC_000005.8:g.112206325A>C	NCBI36
NG_008481.4:g.155209A>C , LRG_130:g.155209A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.7189A>C	ENSP00000473355.2:p.Thr2397Pro
ENST00000505350.2:c.*7141A>C	ENSP00000481752.1:n.*7141A>C
ENST00000507379.6:c.7081A>C	ENSP00000423224.2:p.Thr2361Pro
ENST00000509732.6:c.7135A>C	ENSP00000426541.2:p.Thr2379Pro
ENST00000512211.7:c.7135A>C	ENSP00000423828.3:p.Thr2379Pro
ENST00000257430.9:c.7135A>C MANE Select	ENSP00000257430.4:p.Thr2379Pro
ENST00000257430.8:c.7135A>C	ENSP00000257430.4:p.Thr2379Pro
ENST00000508376.6:c.7135A>C	ENSP00000427089.2:p.Thr2379Pro
ENST00000508624.5:c.*6457A>C	ENSP00000424265.1:n.*6457A>C
ENST00000520401.1:c.230+13757A>C
NM_000038.5:c.7135A>C	NP_000029.2:p.Thr2379Pro
NM_001127510.2:c.7135A>C	NP_001120982.1:p.Thr2379Pro
NM_001127511.2:c.7081A>C	NP_001120983.2:p.Thr2361Pro
NM_001354895.1:c.7135A>C	NP_001341824.1:p.Thr2379Pro
NM_001354896.1:c.7189A>C	NP_001341825.1:p.Thr2397Pro
NM_001354897.1:c.7165A>C	NP_001341826.1:p.Thr2389Pro
NM_001354898.1:c.7060A>C	NP_001341827.1:p.Thr2354Pro
NM_001354899.1:c.7051A>C	NP_001341828.1:p.Thr2351Pro
NM_001354900.1:c.7012A>C	NP_001341829.1:p.Thr2338Pro
NM_001354901.1:c.6958A>C	NP_001341830.1:p.Thr2320Pro
NM_001354902.1:c.6862A>C	NP_001341831.1:p.Thr2288Pro
NM_001354903.1:c.6832A>C	NP_001341832.1:p.Thr2278Pro
NM_001354904.1:c.6757A>C	NP_001341833.1:p.Thr2253Pro
NM_001354905.1:c.6655A>C	NP_001341834.1:p.Thr2219Pro
NM_001354906.1:c.6286A>C	NP_001341835.1:p.Thr2096Pro
NM_000038.6:c.7135A>C MANE Select	NP_000029.2:p.Thr2379Pro
NM_001127510.3:c.7135A>C	NP_001120982.1:p.Thr2379Pro
NM_001127511.3:c.7081A>C	NP_001120983.2:p.Thr2361Pro
NM_001354895.2:c.7135A>C	NP_001341824.1:p.Thr2379Pro
NM_001354896.2:c.7189A>C	NP_001341825.1:p.Thr2397Pro
NM_001354897.2:c.7165A>C	NP_001341826.1:p.Thr2389Pro
NM_001354898.2:c.7060A>C	NP_001341827.1:p.Thr2354Pro
NM_001354899.2:c.7051A>C	NP_001341828.1:p.Thr2351Pro
NM_001354900.2:c.7012A>C	NP_001341829.1:p.Thr2338Pro
NM_001354901.2:c.6958A>C	NP_001341830.1:p.Thr2320Pro
NM_001354902.2:c.6862A>C	NP_001341831.1:p.Thr2288Pro
NM_001354903.2:c.6832A>C	NP_001341832.1:p.Thr2278Pro
NM_001354904.2:c.6757A>C	NP_001341833.1:p.Thr2253Pro
NM_001354905.2:c.6655A>C	NP_001341834.1:p.Thr2219Pro
NM_001354906.2:c.6286A>C	NP_001341835.1:p.Thr2096Pro