Canonical Allele Identifier: CA16027949

Gene: APC

Linked Data

• dbSNP Id: rs750459690
• MyVariant Identifiers: chr5:g.112174316C>G (hg19) ; chr5:g.112838619C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112838619C>G , CM000667.2:g.112838619C>G	GRCh38
NC_000005.9:g.112174316C>G , CM000667.1:g.112174316C>G	GRCh37
NC_000005.8:g.112202215C>G	NCBI36
NG_008481.4:g.151099C>G , LRG_130:g.151099C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502371.3:c.2690C>G	ENSP00000484935.2:n.2690C>G
ENST00000504915.3:c.3079C>G	ENSP00000473355.2:p.His1027Asp
ENST00000505350.2:c.*3031C>G	ENSP00000481752.1:n.*3031C>G
ENST00000507379.6:c.2971C>G	ENSP00000423224.2:p.His991Asp
ENST00000509732.6:c.3025C>G	ENSP00000426541.2:p.His1009Asp
ENST00000512211.7:c.3025C>G	ENSP00000423828.3:p.His1009Asp
ENST00000257430.9:c.3025C>G MANE Select	ENSP00000257430.4:p.His1009Asp
ENST00000257430.8:c.3025C>G	ENSP00000257430.4:p.His1009Asp
ENST00000502371.2:c.1378C>G
ENST00000507379.5:c.2971C>G	ENSP00000423224.1:p.His991Asp
ENST00000508376.6:c.3025C>G	ENSP00000427089.2:p.His1009Asp
ENST00000508624.5:c.*2347C>G	ENSP00000424265.1:n.*2347C>G
ENST00000512211.6:c.3025C>G	ENSP00000423828.2:p.His1009Asp
ENST00000520401.1:c.230+9647C>G
NM_000038.5:c.3025C>G	NP_000029.2:p.His1009Asp
NM_001127510.2:c.3025C>G	NP_001120982.1:p.His1009Asp
NM_001127511.2:c.2971C>G	NP_001120983.2:p.His991Asp
NM_001354895.1:c.3025C>G	NP_001341824.1:p.His1009Asp
NM_001354896.1:c.3079C>G	NP_001341825.1:p.His1027Asp
NM_001354897.1:c.3055C>G	NP_001341826.1:p.His1019Asp
NM_001354898.1:c.2950C>G	NP_001341827.1:p.His984Asp
NM_001354899.1:c.2941C>G	NP_001341828.1:p.His981Asp
NM_001354900.1:c.2902C>G	NP_001341829.1:p.His968Asp
NM_001354901.1:c.2848C>G	NP_001341830.1:p.His950Asp
NM_001354902.1:c.2752C>G	NP_001341831.1:p.His918Asp
NM_001354903.1:c.2722C>G	NP_001341832.1:p.His908Asp
NM_001354904.1:c.2647C>G	NP_001341833.1:p.His883Asp
NM_001354905.1:c.2545C>G	NP_001341834.1:p.His849Asp
NM_001354906.1:c.2176C>G	NP_001341835.1:p.His726Asp
NM_000038.6:c.3025C>G MANE Select	NP_000029.2:p.His1009Asp
NM_001127510.3:c.3025C>G	NP_001120982.1:p.His1009Asp
NM_001127511.3:c.2971C>G	NP_001120983.2:p.His991Asp
NM_001354895.2:c.3025C>G	NP_001341824.1:p.His1009Asp
NM_001354896.2:c.3079C>G	NP_001341825.1:p.His1027Asp
NM_001354897.2:c.3055C>G	NP_001341826.1:p.His1019Asp
NM_001354898.2:c.2950C>G	NP_001341827.1:p.His984Asp
NM_001354899.2:c.2941C>G	NP_001341828.1:p.His981Asp
NM_001354900.2:c.2902C>G	NP_001341829.1:p.His968Asp
NM_001354901.2:c.2848C>G	NP_001341830.1:p.His950Asp
NM_001354902.2:c.2752C>G	NP_001341831.1:p.His918Asp
NM_001354903.2:c.2722C>G	NP_001341832.1:p.His908Asp
NM_001354904.2:c.2647C>G	NP_001341833.1:p.His883Asp
NM_001354905.2:c.2545C>G	NP_001341834.1:p.His849Asp
NM_001354906.2:c.2176C>G	NP_001341835.1:p.His726Asp