Canonical Allele Identifier: CA16024242

Gene: APC

Linked Data

• ClinVar Variation Id: 623123
• ClinVar RCV Id: RCV000761223 ; RCV002386324 ; RCV003336172
• dbSNP Id: rs1561545947
• MyVariant Identifiers: chr5:g.112157621T>A (hg19) ; chr5:g.112821924T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112821924T>A , CM000667.2:g.112821924T>A	GRCh38
NC_000005.9:g.112157621T>A , CM000667.1:g.112157621T>A	GRCh37
NC_000005.8:g.112185520T>A	NCBI36
NG_008481.4:g.134404T>A , LRG_130:g.134404T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502371.3:c.1341T>A	ENSP00000484935.2:p.Cys447Ter
ENST00000504915.3:c.1341T>A	ENSP00000473355.2:p.Cys447Ter
ENST00000505084.2:n.1397T>A
ENST00000505350.2:c.*1347T>A	ENSP00000481752.1:n.*1347T>A
ENST00000507379.6:c.1287T>A	ENSP00000423224.2:p.Cys429Ter
ENST00000509732.6:c.1341T>A	ENSP00000426541.2:p.Cys447Ter
ENST00000512211.7:c.1341T>A	ENSP00000423828.3:p.Cys447Ter
ENST00000257430.9:c.1341T>A MANE Select	ENSP00000257430.4:p.Cys447Ter
ENST00000257430.8:c.1341T>A	ENSP00000257430.4:p.Cys447Ter
ENST00000502371.2:c.29T>A
ENST00000507379.5:c.1287T>A	ENSP00000423224.1:p.Cys429Ter
ENST00000508376.6:c.1341T>A	ENSP00000427089.2:p.Cys447Ter
ENST00000508624.5:c.*663T>A	ENSP00000424265.1:n.*663T>A
ENST00000512211.6:c.1341T>A	ENSP00000423828.2:p.Cys447Ter
NM_000038.5:c.1341T>A	NP_000029.2:p.Cys447Ter
NM_001127510.2:c.1341T>A	NP_001120982.1:p.Cys447Ter
NM_001127511.2:c.1287T>A	NP_001120983.2:p.Cys429Ter
NM_001354895.1:c.1341T>A	NP_001341824.1:p.Cys447Ter
NM_001354896.1:c.1341T>A	NP_001341825.1:p.Cys447Ter
NM_001354897.1:c.1371T>A	NP_001341826.1:p.Cys457Ter
NM_001354898.1:c.1266T>A	NP_001341827.1:p.Cys422Ter
NM_001354899.1:c.1257T>A	NP_001341828.1:p.Cys419Ter
NM_001354900.1:c.1164T>A	NP_001341829.1:p.Cys388Ter
NM_001354901.1:c.1164T>A	NP_001341830.1:p.Cys388Ter
NM_001354902.1:c.1068T>A	NP_001341831.1:p.Cys356Ter
NM_001354903.1:c.1038T>A	NP_001341832.1:p.Cys346Ter
NM_001354904.1:c.963T>A	NP_001341833.1:p.Cys321Ter
NM_001354905.1:c.861T>A	NP_001341834.1:p.Cys287Ter
NM_001354906.1:c.492T>A	NP_001341835.1:p.Cys164Ter
NM_000038.6:c.1341T>A MANE Select	NP_000029.2:p.Cys447Ter
NM_001127510.3:c.1341T>A	NP_001120982.1:p.Cys447Ter
NM_001127511.3:c.1287T>A	NP_001120983.2:p.Cys429Ter
NM_001354895.2:c.1341T>A	NP_001341824.1:p.Cys447Ter
NM_001354896.2:c.1341T>A	NP_001341825.1:p.Cys447Ter
NM_001354897.2:c.1371T>A	NP_001341826.1:p.Cys457Ter
NM_001354898.2:c.1266T>A	NP_001341827.1:p.Cys422Ter
NM_001354899.2:c.1257T>A	NP_001341828.1:p.Cys419Ter
NM_001354900.2:c.1164T>A	NP_001341829.1:p.Cys388Ter
NM_001354901.2:c.1164T>A	NP_001341830.1:p.Cys388Ter
NM_001354902.2:c.1068T>A	NP_001341831.1:p.Cys356Ter
NM_001354903.2:c.1038T>A	NP_001341832.1:p.Cys346Ter
NM_001354904.2:c.963T>A	NP_001341833.1:p.Cys321Ter
NM_001354905.2:c.861T>A	NP_001341834.1:p.Cys287Ter
NM_001354906.2:c.492T>A	NP_001341835.1:p.Cys164Ter