Canonical Allele Identifier: CA16025443

Gene: APC

Linked Data

• ClinVar Variation Id: 429049
• ClinVar RCV Id: RCV000493755 ; RCV000502700
• dbSNP Id: rs1019221239
• MyVariant Identifiers: chr5:g.112170790T>G (hg19) ; chr5:g.112835093T>G (hg38)
• PubMed: PMID:9101302

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112835093T>G , CM000667.2:g.112835093T>G	GRCh38
NC_000005.9:g.112170790T>G , CM000667.1:g.112170790T>G	GRCh37
NC_000005.8:g.112198689T>G	NCBI36
NG_008481.4:g.147573T>G , LRG_130:g.147573T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000502371.3:c.1551T>G	ENSP00000484935.2:n.1551T>G
ENST00000504915.3:c.1940T>G	ENSP00000473355.2:p.Leu647Ter
ENST00000505350.2:c.*1892T>G	ENSP00000481752.1:n.*1892T>G
ENST00000507379.6:c.1832T>G	ENSP00000423224.2:p.Leu611Ter
ENST00000509732.6:c.1886T>G	ENSP00000426541.2:p.Leu629Ter
ENST00000512211.7:c.1886T>G	ENSP00000423828.3:p.Leu629Ter
ENST00000257430.9:c.1886T>G MANE Select	ENSP00000257430.4:p.Leu629Ter
ENST00000257430.8:c.1886T>G	ENSP00000257430.4:p.Leu629Ter
ENST00000502371.2:c.239T>G
ENST00000504915.2:c.575T>G	ENSP00000473355.1:p.Leu192Ter
ENST00000507379.5:c.1832T>G	ENSP00000423224.1:p.Leu611Ter
ENST00000508376.6:c.1886T>G	ENSP00000427089.2:p.Leu629Ter
ENST00000508624.5:c.*1208T>G	ENSP00000424265.1:n.*1208T>G
ENST00000512211.6:c.1886T>G	ENSP00000423828.2:p.Leu629Ter
ENST00000520401.1:c.230+6121T>G
NM_000038.5:c.1886T>G	NP_000029.2:p.Leu629Ter
NM_001127510.2:c.1886T>G	NP_001120982.1:p.Leu629Ter
NM_001127511.2:c.1832T>G	NP_001120983.2:p.Leu611Ter
NM_001354895.1:c.1886T>G	NP_001341824.1:p.Leu629Ter
NM_001354896.1:c.1940T>G	NP_001341825.1:p.Leu647Ter
NM_001354897.1:c.1916T>G	NP_001341826.1:p.Leu639Ter
NM_001354898.1:c.1811T>G	NP_001341827.1:p.Leu604Ter
NM_001354899.1:c.1802T>G	NP_001341828.1:p.Leu601Ter
NM_001354900.1:c.1763T>G	NP_001341829.1:p.Leu588Ter
NM_001354901.1:c.1709T>G	NP_001341830.1:p.Leu570Ter
NM_001354902.1:c.1613T>G	NP_001341831.1:p.Leu538Ter
NM_001354903.1:c.1583T>G	NP_001341832.1:p.Leu528Ter
NM_001354904.1:c.1508T>G	NP_001341833.1:p.Leu503Ter
NM_001354905.1:c.1406T>G	NP_001341834.1:p.Leu469Ter
NM_001354906.1:c.1037T>G	NP_001341835.1:p.Leu346Ter
NM_000038.6:c.1886T>G MANE Select	NP_000029.2:p.Leu629Ter
NM_001127510.3:c.1886T>G	NP_001120982.1:p.Leu629Ter
NM_001127511.3:c.1832T>G	NP_001120983.2:p.Leu611Ter
NM_001354895.2:c.1886T>G	NP_001341824.1:p.Leu629Ter
NM_001354896.2:c.1940T>G	NP_001341825.1:p.Leu647Ter
NM_001354897.2:c.1916T>G	NP_001341826.1:p.Leu639Ter
NM_001354898.2:c.1811T>G	NP_001341827.1:p.Leu604Ter
NM_001354899.2:c.1802T>G	NP_001341828.1:p.Leu601Ter
NM_001354900.2:c.1763T>G	NP_001341829.1:p.Leu588Ter
NM_001354901.2:c.1709T>G	NP_001341830.1:p.Leu570Ter
NM_001354902.2:c.1613T>G	NP_001341831.1:p.Leu538Ter
NM_001354903.2:c.1583T>G	NP_001341832.1:p.Leu528Ter
NM_001354904.2:c.1508T>G	NP_001341833.1:p.Leu503Ter
NM_001354905.2:c.1406T>G	NP_001341834.1:p.Leu469Ter
NM_001354906.2:c.1037T>G	NP_001341835.1:p.Leu346Ter