Canonical Allele Identifier: CA16023244

Gene: APC

Linked Data

• ClinVar Variation Id: 938897
• ClinVar RCV Id: RCV003650680
• dbSNP Id: rs1762419055
• MyVariant Identifiers: chr5:g.112151237T>G (hg19) ; chr5:g.112815540T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112815540T>G , CM000667.2:g.112815540T>G	GRCh38
NC_000005.9:g.112151237T>G , CM000667.1:g.112151237T>G	GRCh37
NC_000005.8:g.112179136T>G	NCBI36
NG_008481.4:g.128020T>G , LRG_130:g.128020T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000502371.3:c.880T>G	ENSP00000484935.2:p.Ser294Ala
ENST00000504915.3:c.880T>G	ENSP00000473355.2:p.Ser294Ala
ENST00000505084.2:n.936T>G
ENST00000505350.2:c.*886T>G	ENSP00000481752.1:n.*886T>G
ENST00000507379.6:c.826T>G	ENSP00000423224.2:p.Ser276Ala
ENST00000509732.6:c.880T>G	ENSP00000426541.2:p.Ser294Ala
ENST00000512211.7:c.880T>G	ENSP00000423828.3:p.Ser294Ala
ENST00000257430.9:c.880T>G MANE Select	ENSP00000257430.4:p.Ser294Ala
ENST00000257430.8:c.880T>G	ENSP00000257430.4:p.Ser294Ala
ENST00000507379.5:c.826T>G	ENSP00000423224.1:p.Ser276Ala
ENST00000508376.6:c.880T>G	ENSP00000427089.2:p.Ser294Ala
ENST00000508624.5:c.*202T>G	ENSP00000424265.1:n.*202T>G
ENST00000512211.6:c.880T>G	ENSP00000423828.2:p.Ser294Ala
NM_000038.5:c.880T>G	NP_000029.2:p.Ser294Ala
NM_001127510.2:c.880T>G	NP_001120982.1:p.Ser294Ala
NM_001127511.2:c.826T>G	NP_001120983.2:p.Ser276Ala
NM_001354895.1:c.880T>G	NP_001341824.1:p.Ser294Ala
NM_001354896.1:c.880T>G	NP_001341825.1:p.Ser294Ala
NM_001354897.1:c.910T>G	NP_001341826.1:p.Ser304Ala
NM_001354898.1:c.805T>G	NP_001341827.1:p.Ser269Ala
NM_001354899.1:c.796T>G	NP_001341828.1:p.Ser266Ala
NM_001354900.1:c.703T>G	NP_001341829.1:p.Ser235Ala
NM_001354901.1:c.703T>G	NP_001341830.1:p.Ser235Ala
NM_001354902.1:c.910T>G	NP_001341831.1:p.Ser304Ala
NM_001354903.1:c.880T>G	NP_001341832.1:p.Ser294Ala
NM_001354904.1:c.805T>G	NP_001341833.1:p.Ser269Ala
NM_001354905.1:c.703T>G	NP_001341834.1:p.Ser235Ala
NM_001354906.1:c.31T>G	NP_001341835.1:p.Ser11Ala
NM_000038.6:c.880T>G MANE Select	NP_000029.2:p.Ser294Ala
NM_001127510.3:c.880T>G	NP_001120982.1:p.Ser294Ala
NM_001127511.3:c.826T>G	NP_001120983.2:p.Ser276Ala
NM_001354895.2:c.880T>G	NP_001341824.1:p.Ser294Ala
NM_001354896.2:c.880T>G	NP_001341825.1:p.Ser294Ala
NM_001354897.2:c.910T>G	NP_001341826.1:p.Ser304Ala
NM_001354898.2:c.805T>G	NP_001341827.1:p.Ser269Ala
NM_001354899.2:c.796T>G	NP_001341828.1:p.Ser266Ala
NM_001354900.2:c.703T>G	NP_001341829.1:p.Ser235Ala
NM_001354901.2:c.703T>G	NP_001341830.1:p.Ser235Ala
NM_001354902.2:c.910T>G	NP_001341831.1:p.Ser304Ala
NM_001354903.2:c.880T>G	NP_001341832.1:p.Ser294Ala
NM_001354904.2:c.805T>G	NP_001341833.1:p.Ser269Ala
NM_001354905.2:c.703T>G	NP_001341834.1:p.Ser235Ala
NM_001354906.2:c.31T>G	NP_001341835.1:p.Ser11Ala