Canonical Allele Identifier: CA16032559

Gene: APC

Linked Data

• MyVariant Identifiers: chr5:g.112176429T>G (hg19) ; chr5:g.112840732T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112840732T>G , CM000667.2:g.112840732T>G	GRCh38
NC_000005.9:g.112176429T>G , CM000667.1:g.112176429T>G	GRCh37
NC_000005.8:g.112204328T>G	NCBI36
NG_008481.4:g.153212T>G , LRG_130:g.153212T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000504915.3:c.5192T>G	ENSP00000473355.2:p.Leu1731Trp
ENST00000505350.2:c.*5144T>G	ENSP00000481752.1:n.*5144T>G
ENST00000507379.6:c.5084T>G	ENSP00000423224.2:p.Leu1695Trp
ENST00000509732.6:c.5138T>G	ENSP00000426541.2:p.Leu1713Trp
ENST00000512211.7:c.5138T>G	ENSP00000423828.3:p.Leu1713Trp
ENST00000257430.9:c.5138T>G MANE Select	ENSP00000257430.4:p.Leu1713Trp
ENST00000257430.8:c.5138T>G	ENSP00000257430.4:p.Leu1713Trp
ENST00000508376.6:c.5138T>G	ENSP00000427089.2:p.Leu1713Trp
ENST00000508624.5:c.*4460T>G	ENSP00000424265.1:n.*4460T>G
ENST00000520401.1:c.230+11760T>G
NM_000038.5:c.5138T>G	NP_000029.2:p.Leu1713Trp
NM_001127510.2:c.5138T>G	NP_001120982.1:p.Leu1713Trp
NM_001127511.2:c.5084T>G	NP_001120983.2:p.Leu1695Trp
NM_001354895.1:c.5138T>G	NP_001341824.1:p.Leu1713Trp
NM_001354896.1:c.5192T>G	NP_001341825.1:p.Leu1731Trp
NM_001354897.1:c.5168T>G	NP_001341826.1:p.Leu1723Trp
NM_001354898.1:c.5063T>G	NP_001341827.1:p.Leu1688Trp
NM_001354899.1:c.5054T>G	NP_001341828.1:p.Leu1685Trp
NM_001354900.1:c.5015T>G	NP_001341829.1:p.Leu1672Trp
NM_001354901.1:c.4961T>G	NP_001341830.1:p.Leu1654Trp
NM_001354902.1:c.4865T>G	NP_001341831.1:p.Leu1622Trp
NM_001354903.1:c.4835T>G	NP_001341832.1:p.Leu1612Trp
NM_001354904.1:c.4760T>G	NP_001341833.1:p.Leu1587Trp
NM_001354905.1:c.4658T>G	NP_001341834.1:p.Leu1553Trp
NM_001354906.1:c.4289T>G	NP_001341835.1:p.Leu1430Trp
NM_000038.6:c.5138T>G MANE Select	NP_000029.2:p.Leu1713Trp
NM_001127510.3:c.5138T>G	NP_001120982.1:p.Leu1713Trp
NM_001127511.3:c.5084T>G	NP_001120983.2:p.Leu1695Trp
NM_001354895.2:c.5138T>G	NP_001341824.1:p.Leu1713Trp
NM_001354896.2:c.5192T>G	NP_001341825.1:p.Leu1731Trp
NM_001354897.2:c.5168T>G	NP_001341826.1:p.Leu1723Trp
NM_001354898.2:c.5063T>G	NP_001341827.1:p.Leu1688Trp
NM_001354899.2:c.5054T>G	NP_001341828.1:p.Leu1685Trp
NM_001354900.2:c.5015T>G	NP_001341829.1:p.Leu1672Trp
NM_001354901.2:c.4961T>G	NP_001341830.1:p.Leu1654Trp
NM_001354902.2:c.4865T>G	NP_001341831.1:p.Leu1622Trp
NM_001354903.2:c.4835T>G	NP_001341832.1:p.Leu1612Trp
NM_001354904.2:c.4760T>G	NP_001341833.1:p.Leu1587Trp
NM_001354905.2:c.4658T>G	NP_001341834.1:p.Leu1553Trp
NM_001354906.2:c.4289T>G	NP_001341835.1:p.Leu1430Trp