Canonical Allele Identifier: CA10578347

Gene: APC

Linked Data

• ClinVar Variation Id: 233468
• ClinVar RCV Id: RCV002229315
• dbSNP Id: rs876660427
• gnomAD v4: 5-112838608-C-T
• MyVariant Identifiers: chr5:g.112174305C>T (hg19) ; chr5:g.112838608C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112838608C>T , CM000667.2:g.112838608C>T	GRCh38
NC_000005.9:g.112174305C>T , CM000667.1:g.112174305C>T	GRCh37
NC_000005.8:g.112202204C>T	NCBI36
NG_008481.4:g.151088C>T , LRG_130:g.151088C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000502371.3:c.2679C>T	ENSP00000484935.2:n.2679C>T
ENST00000504915.3:c.3068C>T	ENSP00000473355.2:p.Ala1023Val
ENST00000505350.2:c.*3020C>T	ENSP00000481752.1:n.*3020C>T
ENST00000507379.6:c.2960C>T	ENSP00000423224.2:p.Ala987Val
ENST00000509732.6:c.3014C>T	ENSP00000426541.2:p.Ala1005Val
ENST00000512211.7:c.3014C>T	ENSP00000423828.3:p.Ala1005Val
ENST00000257430.9:c.3014C>T MANE Select	ENSP00000257430.4:p.Ala1005Val
ENST00000257430.8:c.3014C>T	ENSP00000257430.4:p.Ala1005Val
ENST00000502371.2:c.1367C>T
ENST00000507379.5:c.2960C>T	ENSP00000423224.1:p.Ala987Val
ENST00000508376.6:c.3014C>T	ENSP00000427089.2:p.Ala1005Val
ENST00000508624.5:c.*2336C>T	ENSP00000424265.1:n.*2336C>T
ENST00000512211.6:c.3014C>T	ENSP00000423828.2:p.Ala1005Val
ENST00000520401.1:c.230+9636C>T
NM_000038.5:c.3014C>T	NP_000029.2:p.Ala1005Val
NM_001127510.2:c.3014C>T	NP_001120982.1:p.Ala1005Val
NM_001127511.2:c.2960C>T	NP_001120983.2:p.Ala987Val
NM_001354895.1:c.3014C>T	NP_001341824.1:p.Ala1005Val
NM_001354896.1:c.3068C>T	NP_001341825.1:p.Ala1023Val
NM_001354897.1:c.3044C>T	NP_001341826.1:p.Ala1015Val
NM_001354898.1:c.2939C>T	NP_001341827.1:p.Ala980Val
NM_001354899.1:c.2930C>T	NP_001341828.1:p.Ala977Val
NM_001354900.1:c.2891C>T	NP_001341829.1:p.Ala964Val
NM_001354901.1:c.2837C>T	NP_001341830.1:p.Ala946Val
NM_001354902.1:c.2741C>T	NP_001341831.1:p.Ala914Val
NM_001354903.1:c.2711C>T	NP_001341832.1:p.Ala904Val
NM_001354904.1:c.2636C>T	NP_001341833.1:p.Ala879Val
NM_001354905.1:c.2534C>T	NP_001341834.1:p.Ala845Val
NM_001354906.1:c.2165C>T	NP_001341835.1:p.Ala722Val
NM_000038.6:c.3014C>T MANE Select	NP_000029.2:p.Ala1005Val
NM_001127510.3:c.3014C>T	NP_001120982.1:p.Ala1005Val
NM_001127511.3:c.2960C>T	NP_001120983.2:p.Ala987Val
NM_001354895.2:c.3014C>T	NP_001341824.1:p.Ala1005Val
NM_001354896.2:c.3068C>T	NP_001341825.1:p.Ala1023Val
NM_001354897.2:c.3044C>T	NP_001341826.1:p.Ala1015Val
NM_001354898.2:c.2939C>T	NP_001341827.1:p.Ala980Val
NM_001354899.2:c.2930C>T	NP_001341828.1:p.Ala977Val
NM_001354900.2:c.2891C>T	NP_001341829.1:p.Ala964Val
NM_001354901.2:c.2837C>T	NP_001341830.1:p.Ala946Val
NM_001354902.2:c.2741C>T	NP_001341831.1:p.Ala914Val
NM_001354903.2:c.2711C>T	NP_001341832.1:p.Ala904Val
NM_001354904.2:c.2636C>T	NP_001341833.1:p.Ala879Val
NM_001354905.2:c.2534C>T	NP_001341834.1:p.Ala845Val
NM_001354906.2:c.2165C>T	NP_001341835.1:p.Ala722Val