Canonical Allele Identifier: CA16036410

Gene: APC

Linked Data

• ClinVar Variation Id: 411553
• ClinVar RCV Id: RCV003766600
• dbSNP Id: rs1060503370
• gnomAD v4: 5-112842507-A-G
• MyVariant Identifiers: chr5:g.112178204A>G (hg19) ; chr5:g.112842507A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112842507A>G , CM000667.2:g.112842507A>G	GRCh38
NC_000005.9:g.112178204A>G , CM000667.1:g.112178204A>G	GRCh37
NC_000005.8:g.112206103A>G	NCBI36
NG_008481.4:g.154987A>G , LRG_130:g.154987A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.6967A>G	ENSP00000473355.2:p.Arg2323Gly
ENST00000505350.2:c.*6919A>G	ENSP00000481752.1:n.*6919A>G
ENST00000507379.6:c.6859A>G	ENSP00000423224.2:p.Arg2287Gly
ENST00000509732.6:c.6913A>G	ENSP00000426541.2:p.Arg2305Gly
ENST00000512211.7:c.6913A>G	ENSP00000423828.3:p.Arg2305Gly
ENST00000257430.9:c.6913A>G MANE Select	ENSP00000257430.4:p.Arg2305Gly
ENST00000257430.8:c.6913A>G	ENSP00000257430.4:p.Arg2305Gly
ENST00000508376.6:c.6913A>G	ENSP00000427089.2:p.Arg2305Gly
ENST00000508624.5:c.*6235A>G	ENSP00000424265.1:n.*6235A>G
ENST00000520401.1:c.230+13535A>G
NM_000038.5:c.6913A>G	NP_000029.2:p.Arg2305Gly
NM_001127510.2:c.6913A>G	NP_001120982.1:p.Arg2305Gly
NM_001127511.2:c.6859A>G	NP_001120983.2:p.Arg2287Gly
NM_001354895.1:c.6913A>G	NP_001341824.1:p.Arg2305Gly
NM_001354896.1:c.6967A>G	NP_001341825.1:p.Arg2323Gly
NM_001354897.1:c.6943A>G	NP_001341826.1:p.Arg2315Gly
NM_001354898.1:c.6838A>G	NP_001341827.1:p.Arg2280Gly
NM_001354899.1:c.6829A>G	NP_001341828.1:p.Arg2277Gly
NM_001354900.1:c.6790A>G	NP_001341829.1:p.Arg2264Gly
NM_001354901.1:c.6736A>G	NP_001341830.1:p.Arg2246Gly
NM_001354902.1:c.6640A>G	NP_001341831.1:p.Arg2214Gly
NM_001354903.1:c.6610A>G	NP_001341832.1:p.Arg2204Gly
NM_001354904.1:c.6535A>G	NP_001341833.1:p.Arg2179Gly
NM_001354905.1:c.6433A>G	NP_001341834.1:p.Arg2145Gly
NM_001354906.1:c.6064A>G	NP_001341835.1:p.Arg2022Gly
NM_000038.6:c.6913A>G MANE Select	NP_000029.2:p.Arg2305Gly
NM_001127510.3:c.6913A>G	NP_001120982.1:p.Arg2305Gly
NM_001127511.3:c.6859A>G	NP_001120983.2:p.Arg2287Gly
NM_001354895.2:c.6913A>G	NP_001341824.1:p.Arg2305Gly
NM_001354896.2:c.6967A>G	NP_001341825.1:p.Arg2323Gly
NM_001354897.2:c.6943A>G	NP_001341826.1:p.Arg2315Gly
NM_001354898.2:c.6838A>G	NP_001341827.1:p.Arg2280Gly
NM_001354899.2:c.6829A>G	NP_001341828.1:p.Arg2277Gly
NM_001354900.2:c.6790A>G	NP_001341829.1:p.Arg2264Gly
NM_001354901.2:c.6736A>G	NP_001341830.1:p.Arg2246Gly
NM_001354902.2:c.6640A>G	NP_001341831.1:p.Arg2214Gly
NM_001354903.2:c.6610A>G	NP_001341832.1:p.Arg2204Gly
NM_001354904.2:c.6535A>G	NP_001341833.1:p.Arg2179Gly
NM_001354905.2:c.6433A>G	NP_001341834.1:p.Arg2145Gly
NM_001354906.2:c.6064A>G	NP_001341835.1:p.Arg2022Gly