Canonical Allele Identifier: CA16032455

Gene: APC

Linked Data

• dbSNP Id: rs2149931692
• MyVariant Identifiers: chr5:g.112176379T>A (hg19) ; chr5:g.112840682T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112840682T>A , CM000667.2:g.112840682T>A	GRCh38
NC_000005.9:g.112176379T>A , CM000667.1:g.112176379T>A	GRCh37
NC_000005.8:g.112204278T>A	NCBI36
NG_008481.4:g.153162T>A , LRG_130:g.153162T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.5142T>A	ENSP00000473355.2:p.Ser1714Arg
ENST00000505350.2:c.*5094T>A	ENSP00000481752.1:n.*5094T>A
ENST00000507379.6:c.5034T>A	ENSP00000423224.2:p.Ser1678Arg
ENST00000509732.6:c.5088T>A	ENSP00000426541.2:p.Ser1696Arg
ENST00000512211.7:c.5088T>A	ENSP00000423828.3:p.Ser1696Arg
ENST00000257430.9:c.5088T>A MANE Select	ENSP00000257430.4:p.Ser1696Arg
ENST00000257430.8:c.5088T>A	ENSP00000257430.4:p.Ser1696Arg
ENST00000508376.6:c.5088T>A	ENSP00000427089.2:p.Ser1696Arg
ENST00000508624.5:c.*4410T>A	ENSP00000424265.1:n.*4410T>A
ENST00000520401.1:c.230+11710T>A
NM_000038.5:c.5088T>A	NP_000029.2:p.Ser1696Arg
NM_001127510.2:c.5088T>A	NP_001120982.1:p.Ser1696Arg
NM_001127511.2:c.5034T>A	NP_001120983.2:p.Ser1678Arg
NM_001354895.1:c.5088T>A	NP_001341824.1:p.Ser1696Arg
NM_001354896.1:c.5142T>A	NP_001341825.1:p.Ser1714Arg
NM_001354897.1:c.5118T>A	NP_001341826.1:p.Ser1706Arg
NM_001354898.1:c.5013T>A	NP_001341827.1:p.Ser1671Arg
NM_001354899.1:c.5004T>A	NP_001341828.1:p.Ser1668Arg
NM_001354900.1:c.4965T>A	NP_001341829.1:p.Ser1655Arg
NM_001354901.1:c.4911T>A	NP_001341830.1:p.Ser1637Arg
NM_001354902.1:c.4815T>A	NP_001341831.1:p.Ser1605Arg
NM_001354903.1:c.4785T>A	NP_001341832.1:p.Ser1595Arg
NM_001354904.1:c.4710T>A	NP_001341833.1:p.Ser1570Arg
NM_001354905.1:c.4608T>A	NP_001341834.1:p.Ser1536Arg
NM_001354906.1:c.4239T>A	NP_001341835.1:p.Ser1413Arg
NM_000038.6:c.5088T>A MANE Select	NP_000029.2:p.Ser1696Arg
NM_001127510.3:c.5088T>A	NP_001120982.1:p.Ser1696Arg
NM_001127511.3:c.5034T>A	NP_001120983.2:p.Ser1678Arg
NM_001354895.2:c.5088T>A	NP_001341824.1:p.Ser1696Arg
NM_001354896.2:c.5142T>A	NP_001341825.1:p.Ser1714Arg
NM_001354897.2:c.5118T>A	NP_001341826.1:p.Ser1706Arg
NM_001354898.2:c.5013T>A	NP_001341827.1:p.Ser1671Arg
NM_001354899.2:c.5004T>A	NP_001341828.1:p.Ser1668Arg
NM_001354900.2:c.4965T>A	NP_001341829.1:p.Ser1655Arg
NM_001354901.2:c.4911T>A	NP_001341830.1:p.Ser1637Arg
NM_001354902.2:c.4815T>A	NP_001341831.1:p.Ser1605Arg
NM_001354903.2:c.4785T>A	NP_001341832.1:p.Ser1595Arg
NM_001354904.2:c.4710T>A	NP_001341833.1:p.Ser1570Arg
NM_001354905.2:c.4608T>A	NP_001341834.1:p.Ser1536Arg
NM_001354906.2:c.4239T>A	NP_001341835.1:p.Ser1413Arg