Canonical Allele Identifier: CA445963652

Gene: APC

Linked Data

• ClinVar Variation Id: 823642
• ClinVar RCV Id: RCV001020053
• dbSNP Id: rs1580634361
• MyVariant Identifiers: chr5:g.112174639T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112838942T>G , CM000667.2:g.112838942T>G	GRCh38
NC_000005.9:g.112174639T>G , CM000667.1:g.112174639T>G	GRCh37
NC_000005.8:g.112202538T>G	NCBI36
NG_008481.4:g.151422T>G , LRG_130:g.151422T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502371.3:c.3013T>G	ENSP00000484935.2:n.3013T>G
ENST00000504915.3:c.3402T>G	ENSP00000473355.2:p.Gly1134=
ENST00000505350.2:c.*3354T>G	ENSP00000481752.1:n.*3354T>G
ENST00000507379.6:c.3294T>G	ENSP00000423224.2:p.Gly1098=
ENST00000509732.6:c.3348T>G	ENSP00000426541.2:p.Gly1116=
ENST00000512211.7:c.3348T>G	ENSP00000423828.3:p.Gly1116=
ENST00000257430.9:c.3348T>G MANE Select	ENSP00000257430.4:p.Gly1116=
ENST00000257430.8:c.3348T>G	ENSP00000257430.4:p.Gly1116=
ENST00000502371.2:c.1701T>G
ENST00000507379.5:c.3294T>G	ENSP00000423224.1:p.Gly1098=
ENST00000508376.6:c.3348T>G	ENSP00000427089.2:p.Gly1116=
ENST00000508624.5:c.*2670T>G	ENSP00000424265.1:n.*2670T>G
ENST00000512211.6:c.3348T>G	ENSP00000423828.2:p.Gly1116=
ENST00000520401.1:c.230+9970T>G
NM_000038.5:c.3348T>G	NP_000029.2:p.Gly1116=
NM_001127510.2:c.3348T>G	NP_001120982.1:p.Gly1116=
NM_001127511.2:c.3294T>G	NP_001120983.2:p.Gly1098=
NM_001354895.1:c.3348T>G	NP_001341824.1:p.Gly1116=
NM_001354896.1:c.3402T>G	NP_001341825.1:p.Gly1134=
NM_001354897.1:c.3378T>G	NP_001341826.1:p.Gly1126=
NM_001354898.1:c.3273T>G	NP_001341827.1:p.Gly1091=
NM_001354899.1:c.3264T>G	NP_001341828.1:p.Gly1088=
NM_001354900.1:c.3225T>G	NP_001341829.1:p.Gly1075=
NM_001354901.1:c.3171T>G	NP_001341830.1:p.Gly1057=
NM_001354902.1:c.3075T>G	NP_001341831.1:p.Gly1025=
NM_001354903.1:c.3045T>G	NP_001341832.1:p.Gly1015=
NM_001354904.1:c.2970T>G	NP_001341833.1:p.Gly990=
NM_001354905.1:c.2868T>G	NP_001341834.1:p.Gly956=
NM_001354906.1:c.2499T>G	NP_001341835.1:p.Gly833=
NM_000038.6:c.3348T>G MANE Select	NP_000029.2:p.Gly1116=
NM_001127510.3:c.3348T>G	NP_001120982.1:p.Gly1116=
NM_001127511.3:c.3294T>G	NP_001120983.2:p.Gly1098=
NM_001354895.2:c.3348T>G	NP_001341824.1:p.Gly1116=
NM_001354896.2:c.3402T>G	NP_001341825.1:p.Gly1134=
NM_001354897.2:c.3378T>G	NP_001341826.1:p.Gly1126=
NM_001354898.2:c.3273T>G	NP_001341827.1:p.Gly1091=
NM_001354899.2:c.3264T>G	NP_001341828.1:p.Gly1088=
NM_001354900.2:c.3225T>G	NP_001341829.1:p.Gly1075=
NM_001354901.2:c.3171T>G	NP_001341830.1:p.Gly1057=
NM_001354902.2:c.3075T>G	NP_001341831.1:p.Gly1025=
NM_001354903.2:c.3045T>G	NP_001341832.1:p.Gly1015=
NM_001354904.2:c.2970T>G	NP_001341833.1:p.Gly990=
NM_001354905.2:c.2868T>G	NP_001341834.1:p.Gly956=
NM_001354906.2:c.2499T>G	NP_001341835.1:p.Gly833=