Canonical Allele Identifier: CA16032725

Gene: APC

Linked Data

• ClinVar Variation Id: 579159
• ClinVar RCV Id: RCV000772411 ; RCV003534702
• dbSNP Id: rs1561598415
• MyVariant Identifiers: chr5:g.112176503C>G (hg19) ; chr5:g.112840806C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112840806C>G , CM000667.2:g.112840806C>G	GRCh38
NC_000005.9:g.112176503C>G , CM000667.1:g.112176503C>G	GRCh37
NC_000005.8:g.112204402C>G	NCBI36
NG_008481.4:g.153286C>G , LRG_130:g.153286C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.5266C>G	ENSP00000473355.2:p.His1756Asp
ENST00000505350.2:c.*5218C>G	ENSP00000481752.1:n.*5218C>G
ENST00000507379.6:c.5158C>G	ENSP00000423224.2:p.His1720Asp
ENST00000509732.6:c.5212C>G	ENSP00000426541.2:p.His1738Asp
ENST00000512211.7:c.5212C>G	ENSP00000423828.3:p.His1738Asp
ENST00000257430.9:c.5212C>G MANE Select	ENSP00000257430.4:p.His1738Asp
ENST00000257430.8:c.5212C>G	ENSP00000257430.4:p.His1738Asp
ENST00000508376.6:c.5212C>G	ENSP00000427089.2:p.His1738Asp
ENST00000508624.5:c.*4534C>G	ENSP00000424265.1:n.*4534C>G
ENST00000520401.1:c.230+11834C>G
NM_000038.5:c.5212C>G	NP_000029.2:p.His1738Asp
NM_001127510.2:c.5212C>G	NP_001120982.1:p.His1738Asp
NM_001127511.2:c.5158C>G	NP_001120983.2:p.His1720Asp
NM_001354895.1:c.5212C>G	NP_001341824.1:p.His1738Asp
NM_001354896.1:c.5266C>G	NP_001341825.1:p.His1756Asp
NM_001354897.1:c.5242C>G	NP_001341826.1:p.His1748Asp
NM_001354898.1:c.5137C>G	NP_001341827.1:p.His1713Asp
NM_001354899.1:c.5128C>G	NP_001341828.1:p.His1710Asp
NM_001354900.1:c.5089C>G	NP_001341829.1:p.His1697Asp
NM_001354901.1:c.5035C>G	NP_001341830.1:p.His1679Asp
NM_001354902.1:c.4939C>G	NP_001341831.1:p.His1647Asp
NM_001354903.1:c.4909C>G	NP_001341832.1:p.His1637Asp
NM_001354904.1:c.4834C>G	NP_001341833.1:p.His1612Asp
NM_001354905.1:c.4732C>G	NP_001341834.1:p.His1578Asp
NM_001354906.1:c.4363C>G	NP_001341835.1:p.His1455Asp
NM_000038.6:c.5212C>G MANE Select	NP_000029.2:p.His1738Asp
NM_001127510.3:c.5212C>G	NP_001120982.1:p.His1738Asp
NM_001127511.3:c.5158C>G	NP_001120983.2:p.His1720Asp
NM_001354895.2:c.5212C>G	NP_001341824.1:p.His1738Asp
NM_001354896.2:c.5266C>G	NP_001341825.1:p.His1756Asp
NM_001354897.2:c.5242C>G	NP_001341826.1:p.His1748Asp
NM_001354898.2:c.5137C>G	NP_001341827.1:p.His1713Asp
NM_001354899.2:c.5128C>G	NP_001341828.1:p.His1710Asp
NM_001354900.2:c.5089C>G	NP_001341829.1:p.His1697Asp
NM_001354901.2:c.5035C>G	NP_001341830.1:p.His1679Asp
NM_001354902.2:c.4939C>G	NP_001341831.1:p.His1647Asp
NM_001354903.2:c.4909C>G	NP_001341832.1:p.His1637Asp
NM_001354904.2:c.4834C>G	NP_001341833.1:p.His1612Asp
NM_001354905.2:c.4732C>G	NP_001341834.1:p.His1578Asp
NM_001354906.2:c.4363C>G	NP_001341835.1:p.His1455Asp