Canonical Allele Identifier: CA015623

Gene: APC

Linked Data

• ClinVar Variation Id: 135729
• ClinVar RCV Id: RCV001192830 ; RCV001778740 ; RCV003153407 ; RCV003650385
• dbSNP Id: rs587780611
• ExAC: 5:112151240 A / G
• gnomAD v2: 5-112151240-A-G
• gnomAD v3: 5-112815543-A-G
• gnomAD v4: 5-112815543-A-G
• MyVariant Identifiers: chr5:g.112151240A>G (hg19) ; chr5:g.112815543A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112815543A>G , CM000667.2:g.112815543A>G	GRCh38
NC_000005.9:g.112151240A>G , CM000667.1:g.112151240A>G	GRCh37
NC_000005.8:g.112179139A>G	NCBI36
NG_008481.4:g.128023A>G , LRG_130:g.128023A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000502371.3:c.883A>G	ENSP00000484935.2:p.Ser295Gly
ENST00000504915.3:c.883A>G	ENSP00000473355.2:p.Ser295Gly
ENST00000505084.2:n.939A>G
ENST00000505350.2:c.*889A>G	ENSP00000481752.1:n.*889A>G
ENST00000507379.6:c.829A>G	ENSP00000423224.2:p.Ser277Gly
ENST00000509732.6:c.883A>G	ENSP00000426541.2:p.Ser295Gly
ENST00000512211.7:c.883A>G	ENSP00000423828.3:p.Ser295Gly
ENST00000257430.9:c.883A>G MANE Select	ENSP00000257430.4:p.Ser295Gly
ENST00000257430.8:c.883A>G	ENSP00000257430.4:p.Ser295Gly
ENST00000507379.5:c.829A>G	ENSP00000423224.1:p.Ser277Gly
ENST00000508376.6:c.883A>G	ENSP00000427089.2:p.Ser295Gly
ENST00000508624.5:c.*205A>G	ENSP00000424265.1:n.*205A>G
ENST00000512211.6:c.883A>G	ENSP00000423828.2:p.Ser295Gly
NM_000038.5:c.883A>G	NP_000029.2:p.Ser295Gly
NM_001127510.2:c.883A>G	NP_001120982.1:p.Ser295Gly
NM_001127511.2:c.829A>G	NP_001120983.2:p.Ser277Gly
NM_001354895.1:c.883A>G	NP_001341824.1:p.Ser295Gly
NM_001354896.1:c.883A>G	NP_001341825.1:p.Ser295Gly
NM_001354897.1:c.913A>G	NP_001341826.1:p.Ser305Gly
NM_001354898.1:c.808A>G	NP_001341827.1:p.Ser270Gly
NM_001354899.1:c.799A>G	NP_001341828.1:p.Ser267Gly
NM_001354900.1:c.706A>G	NP_001341829.1:p.Ser236Gly
NM_001354901.1:c.706A>G	NP_001341830.1:p.Ser236Gly
NM_001354902.1:c.913A>G	NP_001341831.1:p.Ser305Gly
NM_001354903.1:c.883A>G	NP_001341832.1:p.Ser295Gly
NM_001354904.1:c.808A>G	NP_001341833.1:p.Ser270Gly
NM_001354905.1:c.706A>G	NP_001341834.1:p.Ser236Gly
NM_001354906.1:c.34A>G	NP_001341835.1:p.Ser12Gly
NM_000038.6:c.883A>G MANE Select	NP_000029.2:p.Ser295Gly
NM_001127510.3:c.883A>G	NP_001120982.1:p.Ser295Gly
NM_001127511.3:c.829A>G	NP_001120983.2:p.Ser277Gly
NM_001354895.2:c.883A>G	NP_001341824.1:p.Ser295Gly
NM_001354896.2:c.883A>G	NP_001341825.1:p.Ser295Gly
NM_001354897.2:c.913A>G	NP_001341826.1:p.Ser305Gly
NM_001354898.2:c.808A>G	NP_001341827.1:p.Ser270Gly
NM_001354899.2:c.799A>G	NP_001341828.1:p.Ser267Gly
NM_001354900.2:c.706A>G	NP_001341829.1:p.Ser236Gly
NM_001354901.2:c.706A>G	NP_001341830.1:p.Ser236Gly
NM_001354902.2:c.913A>G	NP_001341831.1:p.Ser305Gly
NM_001354903.2:c.883A>G	NP_001341832.1:p.Ser295Gly
NM_001354904.2:c.808A>G	NP_001341833.1:p.Ser270Gly
NM_001354905.2:c.706A>G	NP_001341834.1:p.Ser236Gly
NM_001354906.2:c.34A>G	NP_001341835.1:p.Ser12Gly