Canonical Allele Identifier: CA16028093

Gene: APC

Linked Data

• ClinVar Variation Id: 2122352
• ClinVar RCV Id: RCV003744979
• dbSNP Id: rs2149884026
• MyVariant Identifiers: chr5:g.112174377T>G (hg19) ; chr5:g.112838680T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112838680T>G , CM000667.2:g.112838680T>G	GRCh38
NC_000005.9:g.112174377T>G , CM000667.1:g.112174377T>G	GRCh37
NC_000005.8:g.112202276T>G	NCBI36
NG_008481.4:g.151160T>G , LRG_130:g.151160T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502371.3:c.2751T>G	ENSP00000484935.2:n.2751T>G
ENST00000504915.3:c.3140T>G	ENSP00000473355.2:p.Leu1047Arg
ENST00000505350.2:c.*3092T>G	ENSP00000481752.1:n.*3092T>G
ENST00000507379.6:c.3032T>G	ENSP00000423224.2:p.Leu1011Arg
ENST00000509732.6:c.3086T>G	ENSP00000426541.2:p.Leu1029Arg
ENST00000512211.7:c.3086T>G	ENSP00000423828.3:p.Leu1029Arg
ENST00000257430.9:c.3086T>G MANE Select	ENSP00000257430.4:p.Leu1029Arg
ENST00000257430.8:c.3086T>G	ENSP00000257430.4:p.Leu1029Arg
ENST00000502371.2:c.1439T>G
ENST00000507379.5:c.3032T>G	ENSP00000423224.1:p.Leu1011Arg
ENST00000508376.6:c.3086T>G	ENSP00000427089.2:p.Leu1029Arg
ENST00000508624.5:c.*2408T>G	ENSP00000424265.1:n.*2408T>G
ENST00000512211.6:c.3086T>G	ENSP00000423828.2:p.Leu1029Arg
ENST00000520401.1:c.230+9708T>G
NM_000038.5:c.3086T>G	NP_000029.2:p.Leu1029Arg
NM_001127510.2:c.3086T>G	NP_001120982.1:p.Leu1029Arg
NM_001127511.2:c.3032T>G	NP_001120983.2:p.Leu1011Arg
NM_001354895.1:c.3086T>G	NP_001341824.1:p.Leu1029Arg
NM_001354896.1:c.3140T>G	NP_001341825.1:p.Leu1047Arg
NM_001354897.1:c.3116T>G	NP_001341826.1:p.Leu1039Arg
NM_001354898.1:c.3011T>G	NP_001341827.1:p.Leu1004Arg
NM_001354899.1:c.3002T>G	NP_001341828.1:p.Leu1001Arg
NM_001354900.1:c.2963T>G	NP_001341829.1:p.Leu988Arg
NM_001354901.1:c.2909T>G	NP_001341830.1:p.Leu970Arg
NM_001354902.1:c.2813T>G	NP_001341831.1:p.Leu938Arg
NM_001354903.1:c.2783T>G	NP_001341832.1:p.Leu928Arg
NM_001354904.1:c.2708T>G	NP_001341833.1:p.Leu903Arg
NM_001354905.1:c.2606T>G	NP_001341834.1:p.Leu869Arg
NM_001354906.1:c.2237T>G	NP_001341835.1:p.Leu746Arg
NM_000038.6:c.3086T>G MANE Select	NP_000029.2:p.Leu1029Arg
NM_001127510.3:c.3086T>G	NP_001120982.1:p.Leu1029Arg
NM_001127511.3:c.3032T>G	NP_001120983.2:p.Leu1011Arg
NM_001354895.2:c.3086T>G	NP_001341824.1:p.Leu1029Arg
NM_001354896.2:c.3140T>G	NP_001341825.1:p.Leu1047Arg
NM_001354897.2:c.3116T>G	NP_001341826.1:p.Leu1039Arg
NM_001354898.2:c.3011T>G	NP_001341827.1:p.Leu1004Arg
NM_001354899.2:c.3002T>G	NP_001341828.1:p.Leu1001Arg
NM_001354900.2:c.2963T>G	NP_001341829.1:p.Leu988Arg
NM_001354901.2:c.2909T>G	NP_001341830.1:p.Leu970Arg
NM_001354902.2:c.2813T>G	NP_001341831.1:p.Leu938Arg
NM_001354903.2:c.2783T>G	NP_001341832.1:p.Leu928Arg
NM_001354904.2:c.2708T>G	NP_001341833.1:p.Leu903Arg
NM_001354905.2:c.2606T>G	NP_001341834.1:p.Leu869Arg
NM_001354906.2:c.2237T>G	NP_001341835.1:p.Leu746Arg