Canonical Allele Identifier: CA16027946

Gene: APC

Linked Data

• dbSNP Id: rs2149882512
• MyVariant Identifiers: chr5:g.112174314T>G (hg19) ; chr5:g.112838617T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112838617T>G , CM000667.2:g.112838617T>G	GRCh38
NC_000005.9:g.112174314T>G , CM000667.1:g.112174314T>G	GRCh37
NC_000005.8:g.112202213T>G	NCBI36
NG_008481.4:g.151097T>G , LRG_130:g.151097T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502371.3:c.2688T>G	ENSP00000484935.2:n.2688T>G
ENST00000504915.3:c.3077T>G	ENSP00000473355.2:p.Ile1026Arg
ENST00000505350.2:c.*3029T>G	ENSP00000481752.1:n.*3029T>G
ENST00000507379.6:c.2969T>G	ENSP00000423224.2:p.Ile990Arg
ENST00000509732.6:c.3023T>G	ENSP00000426541.2:p.Ile1008Arg
ENST00000512211.7:c.3023T>G	ENSP00000423828.3:p.Ile1008Arg
ENST00000257430.9:c.3023T>G MANE Select	ENSP00000257430.4:p.Ile1008Arg
ENST00000257430.8:c.3023T>G	ENSP00000257430.4:p.Ile1008Arg
ENST00000502371.2:c.1376T>G
ENST00000507379.5:c.2969T>G	ENSP00000423224.1:p.Ile990Arg
ENST00000508376.6:c.3023T>G	ENSP00000427089.2:p.Ile1008Arg
ENST00000508624.5:c.*2345T>G	ENSP00000424265.1:n.*2345T>G
ENST00000512211.6:c.3023T>G	ENSP00000423828.2:p.Ile1008Arg
ENST00000520401.1:c.230+9645T>G
NM_000038.5:c.3023T>G	NP_000029.2:p.Ile1008Arg
NM_001127510.2:c.3023T>G	NP_001120982.1:p.Ile1008Arg
NM_001127511.2:c.2969T>G	NP_001120983.2:p.Ile990Arg
NM_001354895.1:c.3023T>G	NP_001341824.1:p.Ile1008Arg
NM_001354896.1:c.3077T>G	NP_001341825.1:p.Ile1026Arg
NM_001354897.1:c.3053T>G	NP_001341826.1:p.Ile1018Arg
NM_001354898.1:c.2948T>G	NP_001341827.1:p.Ile983Arg
NM_001354899.1:c.2939T>G	NP_001341828.1:p.Ile980Arg
NM_001354900.1:c.2900T>G	NP_001341829.1:p.Ile967Arg
NM_001354901.1:c.2846T>G	NP_001341830.1:p.Ile949Arg
NM_001354902.1:c.2750T>G	NP_001341831.1:p.Ile917Arg
NM_001354903.1:c.2720T>G	NP_001341832.1:p.Ile907Arg
NM_001354904.1:c.2645T>G	NP_001341833.1:p.Ile882Arg
NM_001354905.1:c.2543T>G	NP_001341834.1:p.Ile848Arg
NM_001354906.1:c.2174T>G	NP_001341835.1:p.Ile725Arg
NM_000038.6:c.3023T>G MANE Select	NP_000029.2:p.Ile1008Arg
NM_001127510.3:c.3023T>G	NP_001120982.1:p.Ile1008Arg
NM_001127511.3:c.2969T>G	NP_001120983.2:p.Ile990Arg
NM_001354895.2:c.3023T>G	NP_001341824.1:p.Ile1008Arg
NM_001354896.2:c.3077T>G	NP_001341825.1:p.Ile1026Arg
NM_001354897.2:c.3053T>G	NP_001341826.1:p.Ile1018Arg
NM_001354898.2:c.2948T>G	NP_001341827.1:p.Ile983Arg
NM_001354899.2:c.2939T>G	NP_001341828.1:p.Ile980Arg
NM_001354900.2:c.2900T>G	NP_001341829.1:p.Ile967Arg
NM_001354901.2:c.2846T>G	NP_001341830.1:p.Ile949Arg
NM_001354902.2:c.2750T>G	NP_001341831.1:p.Ile917Arg
NM_001354903.2:c.2720T>G	NP_001341832.1:p.Ile907Arg
NM_001354904.2:c.2645T>G	NP_001341833.1:p.Ile882Arg
NM_001354905.2:c.2543T>G	NP_001341834.1:p.Ile848Arg
NM_001354906.2:c.2174T>G	NP_001341835.1:p.Ile725Arg