Canonical Allele Identifier: CA16032166

Gene: APC

Linked Data

• ClinVar Variation Id: 949271
• ClinVar RCV Id: RCV003650743
• dbSNP Id: rs1345725138
• MyVariant Identifiers: chr5:g.112176239A>T (hg19) ; chr5:g.112840542A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112840542A>T , CM000667.2:g.112840542A>T	GRCh38
NC_000005.9:g.112176239A>T , CM000667.1:g.112176239A>T	GRCh37
NC_000005.8:g.112204138A>T	NCBI36
NG_008481.4:g.153022A>T , LRG_130:g.153022A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.5002A>T	ENSP00000473355.2:p.Asn1668Tyr
ENST00000505350.2:c.*4954A>T	ENSP00000481752.1:n.*4954A>T
ENST00000507379.6:c.4894A>T	ENSP00000423224.2:p.Asn1632Tyr
ENST00000509732.6:c.4948A>T	ENSP00000426541.2:p.Asn1650Tyr
ENST00000512211.7:c.4948A>T	ENSP00000423828.3:p.Asn1650Tyr
ENST00000257430.9:c.4948A>T MANE Select	ENSP00000257430.4:p.Asn1650Tyr
ENST00000257430.8:c.4948A>T	ENSP00000257430.4:p.Asn1650Tyr
ENST00000508376.6:c.4948A>T	ENSP00000427089.2:p.Asn1650Tyr
ENST00000508624.5:c.*4270A>T	ENSP00000424265.1:n.*4270A>T
ENST00000520401.1:c.230+11570A>T
NM_000038.5:c.4948A>T	NP_000029.2:p.Asn1650Tyr
NM_001127510.2:c.4948A>T	NP_001120982.1:p.Asn1650Tyr
NM_001127511.2:c.4894A>T	NP_001120983.2:p.Asn1632Tyr
NM_001354895.1:c.4948A>T	NP_001341824.1:p.Asn1650Tyr
NM_001354896.1:c.5002A>T	NP_001341825.1:p.Asn1668Tyr
NM_001354897.1:c.4978A>T	NP_001341826.1:p.Asn1660Tyr
NM_001354898.1:c.4873A>T	NP_001341827.1:p.Asn1625Tyr
NM_001354899.1:c.4864A>T	NP_001341828.1:p.Asn1622Tyr
NM_001354900.1:c.4825A>T	NP_001341829.1:p.Asn1609Tyr
NM_001354901.1:c.4771A>T	NP_001341830.1:p.Asn1591Tyr
NM_001354902.1:c.4675A>T	NP_001341831.1:p.Asn1559Tyr
NM_001354903.1:c.4645A>T	NP_001341832.1:p.Asn1549Tyr
NM_001354904.1:c.4570A>T	NP_001341833.1:p.Asn1524Tyr
NM_001354905.1:c.4468A>T	NP_001341834.1:p.Asn1490Tyr
NM_001354906.1:c.4099A>T	NP_001341835.1:p.Asn1367Tyr
NM_000038.6:c.4948A>T MANE Select	NP_000029.2:p.Asn1650Tyr
NM_001127510.3:c.4948A>T	NP_001120982.1:p.Asn1650Tyr
NM_001127511.3:c.4894A>T	NP_001120983.2:p.Asn1632Tyr
NM_001354895.2:c.4948A>T	NP_001341824.1:p.Asn1650Tyr
NM_001354896.2:c.5002A>T	NP_001341825.1:p.Asn1668Tyr
NM_001354897.2:c.4978A>T	NP_001341826.1:p.Asn1660Tyr
NM_001354898.2:c.4873A>T	NP_001341827.1:p.Asn1625Tyr
NM_001354899.2:c.4864A>T	NP_001341828.1:p.Asn1622Tyr
NM_001354900.2:c.4825A>T	NP_001341829.1:p.Asn1609Tyr
NM_001354901.2:c.4771A>T	NP_001341830.1:p.Asn1591Tyr
NM_001354902.2:c.4675A>T	NP_001341831.1:p.Asn1559Tyr
NM_001354903.2:c.4645A>T	NP_001341832.1:p.Asn1549Tyr
NM_001354904.2:c.4570A>T	NP_001341833.1:p.Asn1524Tyr
NM_001354905.2:c.4468A>T	NP_001341834.1:p.Asn1490Tyr
NM_001354906.2:c.4099A>T	NP_001341835.1:p.Asn1367Tyr