Canonical Allele Identifier: CA16037570

Gene: APC

Linked Data

• ClinVar Variation Id: 657079
• ClinVar RCV Id: RCV001026470 ; RCV003536023 ; RCV002538170
• dbSNP Id: rs1580682919
• gnomAD v4: 5-112843057-T-G
• MyVariant Identifiers: chr5:g.112178754T>G (hg19) ; chr5:g.112843057T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112843057T>G , CM000667.2:g.112843057T>G	GRCh38
NC_000005.9:g.112178754T>G , CM000667.1:g.112178754T>G	GRCh37
NC_000005.8:g.112206653T>G	NCBI36
NG_008481.4:g.155537T>G , LRG_130:g.155537T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.7517T>G	ENSP00000473355.2:p.Leu2506Arg
ENST00000505350.2:c.*7469T>G	ENSP00000481752.1:n.*7469T>G
ENST00000507379.6:c.7409T>G	ENSP00000423224.2:p.Leu2470Arg
ENST00000509732.6:c.7463T>G	ENSP00000426541.2:p.Leu2488Arg
ENST00000512211.7:c.7463T>G	ENSP00000423828.3:p.Leu2488Arg
ENST00000257430.9:c.7463T>G MANE Select	ENSP00000257430.4:p.Leu2488Arg
ENST00000257430.8:c.7463T>G	ENSP00000257430.4:p.Leu2488Arg
ENST00000508376.6:c.7463T>G	ENSP00000427089.2:p.Leu2488Arg
ENST00000520401.1:c.231-13592T>G
NM_000038.5:c.7463T>G	NP_000029.2:p.Leu2488Arg
NM_001127510.2:c.7463T>G	NP_001120982.1:p.Leu2488Arg
NM_001127511.2:c.7409T>G	NP_001120983.2:p.Leu2470Arg
NM_001354895.1:c.7463T>G	NP_001341824.1:p.Leu2488Arg
NM_001354896.1:c.7517T>G	NP_001341825.1:p.Leu2506Arg
NM_001354897.1:c.7493T>G	NP_001341826.1:p.Leu2498Arg
NM_001354898.1:c.7388T>G	NP_001341827.1:p.Leu2463Arg
NM_001354899.1:c.7379T>G	NP_001341828.1:p.Leu2460Arg
NM_001354900.1:c.7340T>G	NP_001341829.1:p.Leu2447Arg
NM_001354901.1:c.7286T>G	NP_001341830.1:p.Leu2429Arg
NM_001354902.1:c.7190T>G	NP_001341831.1:p.Leu2397Arg
NM_001354903.1:c.7160T>G	NP_001341832.1:p.Leu2387Arg
NM_001354904.1:c.7085T>G	NP_001341833.1:p.Leu2362Arg
NM_001354905.1:c.6983T>G	NP_001341834.1:p.Leu2328Arg
NM_001354906.1:c.6614T>G	NP_001341835.1:p.Leu2205Arg
NM_000038.6:c.7463T>G MANE Select	NP_000029.2:p.Leu2488Arg
NM_001127510.3:c.7463T>G	NP_001120982.1:p.Leu2488Arg
NM_001127511.3:c.7409T>G	NP_001120983.2:p.Leu2470Arg
NM_001354895.2:c.7463T>G	NP_001341824.1:p.Leu2488Arg
NM_001354896.2:c.7517T>G	NP_001341825.1:p.Leu2506Arg
NM_001354897.2:c.7493T>G	NP_001341826.1:p.Leu2498Arg
NM_001354898.2:c.7388T>G	NP_001341827.1:p.Leu2463Arg
NM_001354899.2:c.7379T>G	NP_001341828.1:p.Leu2460Arg
NM_001354900.2:c.7340T>G	NP_001341829.1:p.Leu2447Arg
NM_001354901.2:c.7286T>G	NP_001341830.1:p.Leu2429Arg
NM_001354902.2:c.7190T>G	NP_001341831.1:p.Leu2397Arg
NM_001354903.2:c.7160T>G	NP_001341832.1:p.Leu2387Arg
NM_001354904.2:c.7085T>G	NP_001341833.1:p.Leu2362Arg
NM_001354905.2:c.6983T>G	NP_001341834.1:p.Leu2328Arg
NM_001354906.2:c.6614T>G	NP_001341835.1:p.Leu2205Arg