Canonical Allele Identifier: CA446209605

Gene: APC

Linked Data

• ClinVar Variation Id: 2452763
• ClinVar RCV Id: RCV003177537
• dbSNP Id: rs2149932958
• MyVariant Identifiers: chr5:g.112176430G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112840733G>A , CM000667.2:g.112840733G>A	GRCh38
NC_000005.9:g.112176430G>A , CM000667.1:g.112176430G>A	GRCh37
NC_000005.8:g.112204329G>A	NCBI36
NG_008481.4:g.153213G>A , LRG_130:g.153213G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000504915.3:c.5193G>A	ENSP00000473355.2:p.Leu1731=
ENST00000505350.2:c.*5145G>A	ENSP00000481752.1:n.*5145G>A
ENST00000507379.6:c.5085G>A	ENSP00000423224.2:p.Leu1695=
ENST00000509732.6:c.5139G>A	ENSP00000426541.2:p.Leu1713=
ENST00000512211.7:c.5139G>A	ENSP00000423828.3:p.Leu1713=
ENST00000257430.9:c.5139G>A MANE Select	ENSP00000257430.4:p.Leu1713=
ENST00000257430.8:c.5139G>A	ENSP00000257430.4:p.Leu1713=
ENST00000508376.6:c.5139G>A	ENSP00000427089.2:p.Leu1713=
ENST00000508624.5:c.*4461G>A	ENSP00000424265.1:n.*4461G>A
ENST00000520401.1:c.230+11761G>A
NM_000038.5:c.5139G>A	NP_000029.2:p.Leu1713=
NM_001127510.2:c.5139G>A	NP_001120982.1:p.Leu1713=
NM_001127511.2:c.5085G>A	NP_001120983.2:p.Leu1695=
NM_001354895.1:c.5139G>A	NP_001341824.1:p.Leu1713=
NM_001354896.1:c.5193G>A	NP_001341825.1:p.Leu1731=
NM_001354897.1:c.5169G>A	NP_001341826.1:p.Leu1723=
NM_001354898.1:c.5064G>A	NP_001341827.1:p.Leu1688=
NM_001354899.1:c.5055G>A	NP_001341828.1:p.Leu1685=
NM_001354900.1:c.5016G>A	NP_001341829.1:p.Leu1672=
NM_001354901.1:c.4962G>A	NP_001341830.1:p.Leu1654=
NM_001354902.1:c.4866G>A	NP_001341831.1:p.Leu1622=
NM_001354903.1:c.4836G>A	NP_001341832.1:p.Leu1612=
NM_001354904.1:c.4761G>A	NP_001341833.1:p.Leu1587=
NM_001354905.1:c.4659G>A	NP_001341834.1:p.Leu1553=
NM_001354906.1:c.4290G>A	NP_001341835.1:p.Leu1430=
NM_000038.6:c.5139G>A MANE Select	NP_000029.2:p.Leu1713=
NM_001127510.3:c.5139G>A	NP_001120982.1:p.Leu1713=
NM_001127511.3:c.5085G>A	NP_001120983.2:p.Leu1695=
NM_001354895.2:c.5139G>A	NP_001341824.1:p.Leu1713=
NM_001354896.2:c.5193G>A	NP_001341825.1:p.Leu1731=
NM_001354897.2:c.5169G>A	NP_001341826.1:p.Leu1723=
NM_001354898.2:c.5064G>A	NP_001341827.1:p.Leu1688=
NM_001354899.2:c.5055G>A	NP_001341828.1:p.Leu1685=
NM_001354900.2:c.5016G>A	NP_001341829.1:p.Leu1672=
NM_001354901.2:c.4962G>A	NP_001341830.1:p.Leu1654=
NM_001354902.2:c.4866G>A	NP_001341831.1:p.Leu1622=
NM_001354903.2:c.4836G>A	NP_001341832.1:p.Leu1612=
NM_001354904.2:c.4761G>A	NP_001341833.1:p.Leu1587=
NM_001354905.2:c.4659G>A	NP_001341834.1:p.Leu1553=
NM_001354906.2:c.4290G>A	NP_001341835.1:p.Leu1430=