Canonical Allele Identifier: CA16023384

Gene: APC

Linked Data

• ClinVar Variation Id: 1767127
• ClinVar RCV Id: RCV002374091 ; RCV003336581
• dbSNP Id: rs748010172
• MyVariant Identifiers: chr5:g.112154677T>A (hg19) ; chr5:g.112818980T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112818980T>A , CM000667.2:g.112818980T>A	GRCh38
NC_000005.9:g.112154677T>A , CM000667.1:g.112154677T>A	GRCh37
NC_000005.8:g.112182576T>A	NCBI36
NG_008481.4:g.131460T>A , LRG_130:g.131460T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502371.3:c.948T>A	ENSP00000484935.2:p.Tyr316Ter
ENST00000504915.3:c.948T>A	ENSP00000473355.2:p.Tyr316Ter
ENST00000505084.2:n.1004T>A
ENST00000505350.2:c.*954T>A	ENSP00000481752.1:n.*954T>A
ENST00000507379.6:c.894T>A	ENSP00000423224.2:p.Tyr298Ter
ENST00000509732.6:c.948T>A	ENSP00000426541.2:p.Tyr316Ter
ENST00000512211.7:c.948T>A	ENSP00000423828.3:p.Tyr316Ter
ENST00000257430.9:c.948T>A MANE Select	ENSP00000257430.4:p.Tyr316Ter
ENST00000257430.8:c.948T>A	ENSP00000257430.4:p.Tyr316Ter
ENST00000507379.5:c.894T>A	ENSP00000423224.1:p.Tyr298Ter
ENST00000508376.6:c.948T>A	ENSP00000427089.2:p.Tyr316Ter
ENST00000508624.5:c.*270T>A	ENSP00000424265.1:n.*270T>A
ENST00000512211.6:c.948T>A	ENSP00000423828.2:p.Tyr316Ter
NM_000038.5:c.948T>A	NP_000029.2:p.Tyr316Ter
NM_001127510.2:c.948T>A	NP_001120982.1:p.Tyr316Ter
NM_001127511.2:c.894T>A	NP_001120983.2:p.Tyr298Ter
NM_001354895.1:c.948T>A	NP_001341824.1:p.Tyr316Ter
NM_001354896.1:c.948T>A	NP_001341825.1:p.Tyr316Ter
NM_001354897.1:c.978T>A	NP_001341826.1:p.Tyr326Ter
NM_001354898.1:c.873T>A	NP_001341827.1:p.Tyr291Ter
NM_001354899.1:c.864T>A	NP_001341828.1:p.Tyr288Ter
NM_001354900.1:c.771T>A	NP_001341829.1:p.Tyr257Ter
NM_001354901.1:c.771T>A	NP_001341830.1:p.Tyr257Ter
NM_001354902.1:c.964-289T>A	NP_001341831.1:n.964-289T>A
NM_001354903.1:c.934-289T>A	NP_001341832.1:n.934-289T>A
NM_001354904.1:c.859-289T>A	NP_001341833.1:n.859-289T>A
NM_001354905.1:c.757-289T>A	NP_001341834.1:n.757-289T>A
NM_001354906.1:c.99T>A	NP_001341835.1:p.Tyr33Ter
NM_000038.6:c.948T>A MANE Select	NP_000029.2:p.Tyr316Ter
NM_001127510.3:c.948T>A	NP_001120982.1:p.Tyr316Ter
NM_001127511.3:c.894T>A	NP_001120983.2:p.Tyr298Ter
NM_001354895.2:c.948T>A	NP_001341824.1:p.Tyr316Ter
NM_001354896.2:c.948T>A	NP_001341825.1:p.Tyr316Ter
NM_001354897.2:c.978T>A	NP_001341826.1:p.Tyr326Ter
NM_001354898.2:c.873T>A	NP_001341827.1:p.Tyr291Ter
NM_001354899.2:c.864T>A	NP_001341828.1:p.Tyr288Ter
NM_001354900.2:c.771T>A	NP_001341829.1:p.Tyr257Ter
NM_001354901.2:c.771T>A	NP_001341830.1:p.Tyr257Ter
NM_001354902.2:c.964-289T>A	NP_001341831.1:n.964-289T>A
NM_001354903.2:c.934-289T>A	NP_001341832.1:n.934-289T>A
NM_001354904.2:c.859-289T>A	NP_001341833.1:n.859-289T>A
NM_001354905.2:c.757-289T>A	NP_001341834.1:n.757-289T>A
NM_001354906.2:c.99T>A	NP_001341835.1:p.Tyr33Ter