Canonical Allele Identifier: CA16032541

Gene: APC

Linked Data

• dbSNP Id: rs1580656554
• MyVariant Identifiers: chr5:g.112176420T>G (hg19) ; chr5:g.112840723T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112840723T>G , CM000667.2:g.112840723T>G	GRCh38
NC_000005.9:g.112176420T>G , CM000667.1:g.112176420T>G	GRCh37
NC_000005.8:g.112204319T>G	NCBI36
NG_008481.4:g.153203T>G , LRG_130:g.153203T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.5183T>G	ENSP00000473355.2:p.Ile1728Arg
ENST00000505350.2:c.*5135T>G	ENSP00000481752.1:n.*5135T>G
ENST00000507379.6:c.5075T>G	ENSP00000423224.2:p.Ile1692Arg
ENST00000509732.6:c.5129T>G	ENSP00000426541.2:p.Ile1710Arg
ENST00000512211.7:c.5129T>G	ENSP00000423828.3:p.Ile1710Arg
ENST00000257430.9:c.5129T>G MANE Select	ENSP00000257430.4:p.Ile1710Arg
ENST00000257430.8:c.5129T>G	ENSP00000257430.4:p.Ile1710Arg
ENST00000508376.6:c.5129T>G	ENSP00000427089.2:p.Ile1710Arg
ENST00000508624.5:c.*4451T>G	ENSP00000424265.1:n.*4451T>G
ENST00000520401.1:c.230+11751T>G
NM_000038.5:c.5129T>G	NP_000029.2:p.Ile1710Arg
NM_001127510.2:c.5129T>G	NP_001120982.1:p.Ile1710Arg
NM_001127511.2:c.5075T>G	NP_001120983.2:p.Ile1692Arg
NM_001354895.1:c.5129T>G	NP_001341824.1:p.Ile1710Arg
NM_001354896.1:c.5183T>G	NP_001341825.1:p.Ile1728Arg
NM_001354897.1:c.5159T>G	NP_001341826.1:p.Ile1720Arg
NM_001354898.1:c.5054T>G	NP_001341827.1:p.Ile1685Arg
NM_001354899.1:c.5045T>G	NP_001341828.1:p.Ile1682Arg
NM_001354900.1:c.5006T>G	NP_001341829.1:p.Ile1669Arg
NM_001354901.1:c.4952T>G	NP_001341830.1:p.Ile1651Arg
NM_001354902.1:c.4856T>G	NP_001341831.1:p.Ile1619Arg
NM_001354903.1:c.4826T>G	NP_001341832.1:p.Ile1609Arg
NM_001354904.1:c.4751T>G	NP_001341833.1:p.Ile1584Arg
NM_001354905.1:c.4649T>G	NP_001341834.1:p.Ile1550Arg
NM_001354906.1:c.4280T>G	NP_001341835.1:p.Ile1427Arg
NM_000038.6:c.5129T>G MANE Select	NP_000029.2:p.Ile1710Arg
NM_001127510.3:c.5129T>G	NP_001120982.1:p.Ile1710Arg
NM_001127511.3:c.5075T>G	NP_001120983.2:p.Ile1692Arg
NM_001354895.2:c.5129T>G	NP_001341824.1:p.Ile1710Arg
NM_001354896.2:c.5183T>G	NP_001341825.1:p.Ile1728Arg
NM_001354897.2:c.5159T>G	NP_001341826.1:p.Ile1720Arg
NM_001354898.2:c.5054T>G	NP_001341827.1:p.Ile1685Arg
NM_001354899.2:c.5045T>G	NP_001341828.1:p.Ile1682Arg
NM_001354900.2:c.5006T>G	NP_001341829.1:p.Ile1669Arg
NM_001354901.2:c.4952T>G	NP_001341830.1:p.Ile1651Arg
NM_001354902.2:c.4856T>G	NP_001341831.1:p.Ile1619Arg
NM_001354903.2:c.4826T>G	NP_001341832.1:p.Ile1609Arg
NM_001354904.2:c.4751T>G	NP_001341833.1:p.Ile1584Arg
NM_001354905.2:c.4649T>G	NP_001341834.1:p.Ile1550Arg
NM_001354906.2:c.4280T>G	NP_001341835.1:p.Ile1427Arg