Canonical Allele Identifier: CA16032469

Gene: APC

Linked Data

• dbSNP Id: rs2149931862
• MyVariant Identifiers: chr5:g.112176386G>A (hg19) ; chr5:g.112840689G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112840689G>A , CM000667.2:g.112840689G>A	GRCh38
NC_000005.9:g.112176386G>A , CM000667.1:g.112176386G>A	GRCh37
NC_000005.8:g.112204285G>A	NCBI36
NG_008481.4:g.153169G>A , LRG_130:g.153169G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.5149G>A	ENSP00000473355.2:p.Glu1717Lys
ENST00000505350.2:c.*5101G>A	ENSP00000481752.1:n.*5101G>A
ENST00000507379.6:c.5041G>A	ENSP00000423224.2:p.Glu1681Lys
ENST00000509732.6:c.5095G>A	ENSP00000426541.2:p.Glu1699Lys
ENST00000512211.7:c.5095G>A	ENSP00000423828.3:p.Glu1699Lys
ENST00000257430.9:c.5095G>A MANE Select	ENSP00000257430.4:p.Glu1699Lys
ENST00000257430.8:c.5095G>A	ENSP00000257430.4:p.Glu1699Lys
ENST00000508376.6:c.5095G>A	ENSP00000427089.2:p.Glu1699Lys
ENST00000508624.5:c.*4417G>A	ENSP00000424265.1:n.*4417G>A
ENST00000520401.1:c.230+11717G>A
NM_000038.5:c.5095G>A	NP_000029.2:p.Glu1699Lys
NM_001127510.2:c.5095G>A	NP_001120982.1:p.Glu1699Lys
NM_001127511.2:c.5041G>A	NP_001120983.2:p.Glu1681Lys
NM_001354895.1:c.5095G>A	NP_001341824.1:p.Glu1699Lys
NM_001354896.1:c.5149G>A	NP_001341825.1:p.Glu1717Lys
NM_001354897.1:c.5125G>A	NP_001341826.1:p.Glu1709Lys
NM_001354898.1:c.5020G>A	NP_001341827.1:p.Glu1674Lys
NM_001354899.1:c.5011G>A	NP_001341828.1:p.Glu1671Lys
NM_001354900.1:c.4972G>A	NP_001341829.1:p.Glu1658Lys
NM_001354901.1:c.4918G>A	NP_001341830.1:p.Glu1640Lys
NM_001354902.1:c.4822G>A	NP_001341831.1:p.Glu1608Lys
NM_001354903.1:c.4792G>A	NP_001341832.1:p.Glu1598Lys
NM_001354904.1:c.4717G>A	NP_001341833.1:p.Glu1573Lys
NM_001354905.1:c.4615G>A	NP_001341834.1:p.Glu1539Lys
NM_001354906.1:c.4246G>A	NP_001341835.1:p.Glu1416Lys
NM_000038.6:c.5095G>A MANE Select	NP_000029.2:p.Glu1699Lys
NM_001127510.3:c.5095G>A	NP_001120982.1:p.Glu1699Lys
NM_001127511.3:c.5041G>A	NP_001120983.2:p.Glu1681Lys
NM_001354895.2:c.5095G>A	NP_001341824.1:p.Glu1699Lys
NM_001354896.2:c.5149G>A	NP_001341825.1:p.Glu1717Lys
NM_001354897.2:c.5125G>A	NP_001341826.1:p.Glu1709Lys
NM_001354898.2:c.5020G>A	NP_001341827.1:p.Glu1674Lys
NM_001354899.2:c.5011G>A	NP_001341828.1:p.Glu1671Lys
NM_001354900.2:c.4972G>A	NP_001341829.1:p.Glu1658Lys
NM_001354901.2:c.4918G>A	NP_001341830.1:p.Glu1640Lys
NM_001354902.2:c.4822G>A	NP_001341831.1:p.Glu1608Lys
NM_001354903.2:c.4792G>A	NP_001341832.1:p.Glu1598Lys
NM_001354904.2:c.4717G>A	NP_001341833.1:p.Glu1573Lys
NM_001354905.2:c.4615G>A	NP_001341834.1:p.Glu1539Lys
NM_001354906.2:c.4246G>A	NP_001341835.1:p.Glu1416Lys