Canonical Allele Identifier: CA16024530

Gene: APC

Linked Data

• dbSNP Id: rs2149809399
• MyVariant Identifiers: chr5:g.112162869C>A (hg19) ; chr5:g.112827172C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112827172C>A , CM000667.2:g.112827172C>A	GRCh38
NC_000005.9:g.112162869C>A , CM000667.1:g.112162869C>A	GRCh37
NC_000005.8:g.112190768C>A	NCBI36
NG_008481.4:g.139652C>A , LRG_130:g.139652C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000502371.3:c.1408+5181C>A	ENSP00000484935.2:n.1408+5181C>A
ENST00000504915.3:c.1527C>A	ENSP00000473355.2:p.Asp509Glu
ENST00000505084.2:n.1529C>A
ENST00000505350.2:c.*1479C>A	ENSP00000481752.1:n.*1479C>A
ENST00000507379.6:c.1419C>A	ENSP00000423224.2:p.Asp473Glu
ENST00000509732.6:c.1473C>A	ENSP00000426541.2:p.Asp491Glu
ENST00000512211.7:c.1473C>A	ENSP00000423828.3:p.Asp491Glu
ENST00000257430.9:c.1473C>A MANE Select	ENSP00000257430.4:p.Asp491Glu
ENST00000257430.8:c.1473C>A	ENSP00000257430.4:p.Asp491Glu
ENST00000502371.2:c.96+5181C>A
ENST00000504915.2:c.162C>A	ENSP00000473355.1:p.Asp54Glu
ENST00000507379.5:c.1419C>A	ENSP00000423224.1:p.Asp473Glu
ENST00000508376.6:c.1473C>A	ENSP00000427089.2:p.Asp491Glu
ENST00000508624.5:c.*795C>A	ENSP00000424265.1:n.*795C>A
ENST00000512211.6:c.1473C>A	ENSP00000423828.2:p.Asp491Glu
NM_000038.5:c.1473C>A	NP_000029.2:p.Asp491Glu
NM_001127510.2:c.1473C>A	NP_001120982.1:p.Asp491Glu
NM_001127511.2:c.1419C>A	NP_001120983.2:p.Asp473Glu
NM_001354895.1:c.1473C>A	NP_001341824.1:p.Asp491Glu
NM_001354896.1:c.1527C>A	NP_001341825.1:p.Asp509Glu
NM_001354897.1:c.1503C>A	NP_001341826.1:p.Asp501Glu
NM_001354898.1:c.1398C>A	NP_001341827.1:p.Asp466Glu
NM_001354899.1:c.1389C>A	NP_001341828.1:p.Asp463Glu
NM_001354900.1:c.1350C>A	NP_001341829.1:p.Asp450Glu
NM_001354901.1:c.1296C>A	NP_001341830.1:p.Asp432Glu
NM_001354902.1:c.1200C>A	NP_001341831.1:p.Asp400Glu
NM_001354903.1:c.1170C>A	NP_001341832.1:p.Asp390Glu
NM_001354904.1:c.1095C>A	NP_001341833.1:p.Asp365Glu
NM_001354905.1:c.993C>A	NP_001341834.1:p.Asp331Glu
NM_001354906.1:c.624C>A	NP_001341835.1:p.Asp208Glu
NM_000038.6:c.1473C>A MANE Select	NP_000029.2:p.Asp491Glu
NM_001127510.3:c.1473C>A	NP_001120982.1:p.Asp491Glu
NM_001127511.3:c.1419C>A	NP_001120983.2:p.Asp473Glu
NM_001354895.2:c.1473C>A	NP_001341824.1:p.Asp491Glu
NM_001354896.2:c.1527C>A	NP_001341825.1:p.Asp509Glu
NM_001354897.2:c.1503C>A	NP_001341826.1:p.Asp501Glu
NM_001354898.2:c.1398C>A	NP_001341827.1:p.Asp466Glu
NM_001354899.2:c.1389C>A	NP_001341828.1:p.Asp463Glu
NM_001354900.2:c.1350C>A	NP_001341829.1:p.Asp450Glu
NM_001354901.2:c.1296C>A	NP_001341830.1:p.Asp432Glu
NM_001354902.2:c.1200C>A	NP_001341831.1:p.Asp400Glu
NM_001354903.2:c.1170C>A	NP_001341832.1:p.Asp390Glu
NM_001354904.2:c.1095C>A	NP_001341833.1:p.Asp365Glu
NM_001354905.2:c.993C>A	NP_001341834.1:p.Asp331Glu
NM_001354906.2:c.624C>A	NP_001341835.1:p.Asp208Glu