Canonical Allele Identifier: CA279696

Gene: APC

Linked Data

• ClinVar Variation Id: 217928
• ClinVar RCV Id: RCV000202053 ; RCV003337245
• dbSNP Id: rs863225314
• MyVariant Identifiers: chr5:g.112162829T>G (hg19) ; chr5:g.112827132T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112827132T>G , CM000667.2:g.112827132T>G	GRCh38
NC_000005.9:g.112162829T>G , CM000667.1:g.112162829T>G	GRCh37
NC_000005.8:g.112190728T>G	NCBI36
NG_008481.4:g.139612T>G , LRG_130:g.139612T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502371.3:c.1408+5141T>G	ENSP00000484935.2:n.1408+5141T>G
ENST00000504915.3:c.1487T>G	ENSP00000473355.2:p.Leu496Ter
ENST00000505084.2:n.1489T>G
ENST00000505350.2:c.*1439T>G	ENSP00000481752.1:n.*1439T>G
ENST00000507379.6:c.1379T>G	ENSP00000423224.2:p.Leu460Ter
ENST00000509732.6:c.1433T>G	ENSP00000426541.2:p.Leu478Ter
ENST00000512211.7:c.1433T>G	ENSP00000423828.3:p.Leu478Ter
ENST00000257430.9:c.1433T>G MANE Select	ENSP00000257430.4:p.Leu478Ter
ENST00000257430.8:c.1433T>G	ENSP00000257430.4:p.Leu478Ter
ENST00000502371.2:c.96+5141T>G
ENST00000504915.2:c.122T>G	ENSP00000473355.1:p.Leu41Ter
ENST00000507379.5:c.1379T>G	ENSP00000423224.1:p.Leu460Ter
ENST00000508376.6:c.1433T>G	ENSP00000427089.2:p.Leu478Ter
ENST00000508624.5:c.*755T>G	ENSP00000424265.1:n.*755T>G
ENST00000512211.6:c.1433T>G	ENSP00000423828.2:p.Leu478Ter
NM_000038.5:c.1433T>G	NP_000029.2:p.Leu478Ter
NM_001127510.2:c.1433T>G	NP_001120982.1:p.Leu478Ter
NM_001127511.2:c.1379T>G	NP_001120983.2:p.Leu460Ter
NM_001354895.1:c.1433T>G	NP_001341824.1:p.Leu478Ter
NM_001354896.1:c.1487T>G	NP_001341825.1:p.Leu496Ter
NM_001354897.1:c.1463T>G	NP_001341826.1:p.Leu488Ter
NM_001354898.1:c.1358T>G	NP_001341827.1:p.Leu453Ter
NM_001354899.1:c.1349T>G	NP_001341828.1:p.Leu450Ter
NM_001354900.1:c.1310T>G	NP_001341829.1:p.Leu437Ter
NM_001354901.1:c.1256T>G	NP_001341830.1:p.Leu419Ter
NM_001354902.1:c.1160T>G	NP_001341831.1:p.Leu387Ter
NM_001354903.1:c.1130T>G	NP_001341832.1:p.Leu377Ter
NM_001354904.1:c.1055T>G	NP_001341833.1:p.Leu352Ter
NM_001354905.1:c.953T>G	NP_001341834.1:p.Leu318Ter
NM_001354906.1:c.584T>G	NP_001341835.1:p.Leu195Ter
NM_000038.6:c.1433T>G MANE Select	NP_000029.2:p.Leu478Ter
NM_001127510.3:c.1433T>G	NP_001120982.1:p.Leu478Ter
NM_001127511.3:c.1379T>G	NP_001120983.2:p.Leu460Ter
NM_001354895.2:c.1433T>G	NP_001341824.1:p.Leu478Ter
NM_001354896.2:c.1487T>G	NP_001341825.1:p.Leu496Ter
NM_001354897.2:c.1463T>G	NP_001341826.1:p.Leu488Ter
NM_001354898.2:c.1358T>G	NP_001341827.1:p.Leu453Ter
NM_001354899.2:c.1349T>G	NP_001341828.1:p.Leu450Ter
NM_001354900.2:c.1310T>G	NP_001341829.1:p.Leu437Ter
NM_001354901.2:c.1256T>G	NP_001341830.1:p.Leu419Ter
NM_001354902.2:c.1160T>G	NP_001341831.1:p.Leu387Ter
NM_001354903.2:c.1130T>G	NP_001341832.1:p.Leu377Ter
NM_001354904.2:c.1055T>G	NP_001341833.1:p.Leu352Ter
NM_001354905.2:c.953T>G	NP_001341834.1:p.Leu318Ter
NM_001354906.2:c.584T>G	NP_001341835.1:p.Leu195Ter