Canonical Allele Identifier: CA16038016

Gene: APC

Linked Data

• ClinVar Variation Id: 1410428
• ClinVar RCV Id: RCV003303373 ; RCV003653519
• dbSNP Id: rs1219275944
• MyVariant Identifiers: chr5:g.112178973T>G (hg19) ; chr5:g.112843276T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112843276T>G , CM000667.2:g.112843276T>G	GRCh38
NC_000005.9:g.112178973T>G , CM000667.1:g.112178973T>G	GRCh37
NC_000005.8:g.112206872T>G	NCBI36
NG_008481.4:g.155756T>G , LRG_130:g.155756T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.7736T>G	ENSP00000473355.2:p.Val2579Gly
ENST00000505350.2:c.*7688T>G	ENSP00000481752.1:n.*7688T>G
ENST00000507379.6:c.7628T>G	ENSP00000423224.2:p.Val2543Gly
ENST00000509732.6:c.7682T>G	ENSP00000426541.2:p.Val2561Gly
ENST00000512211.7:c.7682T>G	ENSP00000423828.3:p.Val2561Gly
ENST00000257430.9:c.7682T>G MANE Select	ENSP00000257430.4:p.Val2561Gly
ENST00000257430.8:c.7682T>G	ENSP00000257430.4:p.Val2561Gly
ENST00000508376.6:c.7682T>G	ENSP00000427089.2:p.Val2561Gly
ENST00000520401.1:c.231-13373T>G
NM_000038.5:c.7682T>G	NP_000029.2:p.Val2561Gly
NM_001127510.2:c.7682T>G	NP_001120982.1:p.Val2561Gly
NM_001127511.2:c.7628T>G	NP_001120983.2:p.Val2543Gly
NM_001354895.1:c.7682T>G	NP_001341824.1:p.Val2561Gly
NM_001354896.1:c.7736T>G	NP_001341825.1:p.Val2579Gly
NM_001354897.1:c.7712T>G	NP_001341826.1:p.Val2571Gly
NM_001354898.1:c.7607T>G	NP_001341827.1:p.Val2536Gly
NM_001354899.1:c.7598T>G	NP_001341828.1:p.Val2533Gly
NM_001354900.1:c.7559T>G	NP_001341829.1:p.Val2520Gly
NM_001354901.1:c.7505T>G	NP_001341830.1:p.Val2502Gly
NM_001354902.1:c.7409T>G	NP_001341831.1:p.Val2470Gly
NM_001354903.1:c.7379T>G	NP_001341832.1:p.Val2460Gly
NM_001354904.1:c.7304T>G	NP_001341833.1:p.Val2435Gly
NM_001354905.1:c.7202T>G	NP_001341834.1:p.Val2401Gly
NM_001354906.1:c.6833T>G	NP_001341835.1:p.Val2278Gly
NM_000038.6:c.7682T>G MANE Select	NP_000029.2:p.Val2561Gly
NM_001127510.3:c.7682T>G	NP_001120982.1:p.Val2561Gly
NM_001127511.3:c.7628T>G	NP_001120983.2:p.Val2543Gly
NM_001354895.2:c.7682T>G	NP_001341824.1:p.Val2561Gly
NM_001354896.2:c.7736T>G	NP_001341825.1:p.Val2579Gly
NM_001354897.2:c.7712T>G	NP_001341826.1:p.Val2571Gly
NM_001354898.2:c.7607T>G	NP_001341827.1:p.Val2536Gly
NM_001354899.2:c.7598T>G	NP_001341828.1:p.Val2533Gly
NM_001354900.2:c.7559T>G	NP_001341829.1:p.Val2520Gly
NM_001354901.2:c.7505T>G	NP_001341830.1:p.Val2502Gly
NM_001354902.2:c.7409T>G	NP_001341831.1:p.Val2470Gly
NM_001354903.2:c.7379T>G	NP_001341832.1:p.Val2460Gly
NM_001354904.2:c.7304T>G	NP_001341833.1:p.Val2435Gly
NM_001354905.2:c.7202T>G	NP_001341834.1:p.Val2401Gly
NM_001354906.2:c.6833T>G	NP_001341835.1:p.Val2278Gly