Canonical Allele Identifier: CA16031720

Gene: APC

Linked Data

• ClinVar Variation Id: 825134
• ClinVar RCV Id: RCV001022970 ; RCV003769570
• dbSNP Id: rs1580651915
• MyVariant Identifiers: chr5:g.112176027T>G (hg19) ; chr5:g.112840330T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112840330T>G , CM000667.2:g.112840330T>G	GRCh38
NC_000005.9:g.112176027T>G , CM000667.1:g.112176027T>G	GRCh37
NC_000005.8:g.112203926T>G	NCBI36
NG_008481.4:g.152810T>G , LRG_130:g.152810T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.4790T>G	ENSP00000473355.2:p.Ile1597Ser
ENST00000505350.2:c.*4742T>G	ENSP00000481752.1:n.*4742T>G
ENST00000507379.6:c.4682T>G	ENSP00000423224.2:p.Ile1561Ser
ENST00000509732.6:c.4736T>G	ENSP00000426541.2:p.Ile1579Ser
ENST00000512211.7:c.4736T>G	ENSP00000423828.3:p.Ile1579Ser
ENST00000257430.9:c.4736T>G MANE Select	ENSP00000257430.4:p.Ile1579Ser
ENST00000257430.8:c.4736T>G	ENSP00000257430.4:p.Ile1579Ser
ENST00000508376.6:c.4736T>G	ENSP00000427089.2:p.Ile1579Ser
ENST00000508624.5:c.*4058T>G	ENSP00000424265.1:n.*4058T>G
ENST00000520401.1:c.230+11358T>G
NM_000038.5:c.4736T>G	NP_000029.2:p.Ile1579Ser
NM_001127510.2:c.4736T>G	NP_001120982.1:p.Ile1579Ser
NM_001127511.2:c.4682T>G	NP_001120983.2:p.Ile1561Ser
NM_001354895.1:c.4736T>G	NP_001341824.1:p.Ile1579Ser
NM_001354896.1:c.4790T>G	NP_001341825.1:p.Ile1597Ser
NM_001354897.1:c.4766T>G	NP_001341826.1:p.Ile1589Ser
NM_001354898.1:c.4661T>G	NP_001341827.1:p.Ile1554Ser
NM_001354899.1:c.4652T>G	NP_001341828.1:p.Ile1551Ser
NM_001354900.1:c.4613T>G	NP_001341829.1:p.Ile1538Ser
NM_001354901.1:c.4559T>G	NP_001341830.1:p.Ile1520Ser
NM_001354902.1:c.4463T>G	NP_001341831.1:p.Ile1488Ser
NM_001354903.1:c.4433T>G	NP_001341832.1:p.Ile1478Ser
NM_001354904.1:c.4358T>G	NP_001341833.1:p.Ile1453Ser
NM_001354905.1:c.4256T>G	NP_001341834.1:p.Ile1419Ser
NM_001354906.1:c.3887T>G	NP_001341835.1:p.Ile1296Ser
NM_000038.6:c.4736T>G MANE Select	NP_000029.2:p.Ile1579Ser
NM_001127510.3:c.4736T>G	NP_001120982.1:p.Ile1579Ser
NM_001127511.3:c.4682T>G	NP_001120983.2:p.Ile1561Ser
NM_001354895.2:c.4736T>G	NP_001341824.1:p.Ile1579Ser
NM_001354896.2:c.4790T>G	NP_001341825.1:p.Ile1597Ser
NM_001354897.2:c.4766T>G	NP_001341826.1:p.Ile1589Ser
NM_001354898.2:c.4661T>G	NP_001341827.1:p.Ile1554Ser
NM_001354899.2:c.4652T>G	NP_001341828.1:p.Ile1551Ser
NM_001354900.2:c.4613T>G	NP_001341829.1:p.Ile1538Ser
NM_001354901.2:c.4559T>G	NP_001341830.1:p.Ile1520Ser
NM_001354902.2:c.4463T>G	NP_001341831.1:p.Ile1488Ser
NM_001354903.2:c.4433T>G	NP_001341832.1:p.Ile1478Ser
NM_001354904.2:c.4358T>G	NP_001341833.1:p.Ile1453Ser
NM_001354905.2:c.4256T>G	NP_001341834.1:p.Ile1419Ser
NM_001354906.2:c.3887T>G	NP_001341835.1:p.Ile1296Ser