Canonical Allele Identifier: CA16038599

Gene: APC

Linked Data

• ClinVar Variation Id: 2816057
• ClinVar RCV Id: RCV003744141
• dbSNP Id: rs2149996861
• MyVariant Identifiers: chr5:g.112179243T>A (hg19) ; chr5:g.112843546T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112843546T>A , CM000667.2:g.112843546T>A	GRCh38
NC_000005.9:g.112179243T>A , CM000667.1:g.112179243T>A	GRCh37
NC_000005.8:g.112207142T>A	NCBI36
NG_008481.4:g.156026T>A , LRG_130:g.156026T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.8006T>A	ENSP00000473355.2:p.Val2669Asp
ENST00000505350.2:c.*7958T>A	ENSP00000481752.1:n.*7958T>A
ENST00000507379.6:c.7898T>A	ENSP00000423224.2:p.Val2633Asp
ENST00000509732.6:c.7952T>A	ENSP00000426541.2:p.Val2651Asp
ENST00000512211.7:c.7952T>A	ENSP00000423828.3:p.Val2651Asp
ENST00000257430.9:c.7952T>A MANE Select	ENSP00000257430.4:p.Val2651Asp
ENST00000257430.8:c.7952T>A	ENSP00000257430.4:p.Val2651Asp
ENST00000508376.6:c.7952T>A	ENSP00000427089.2:p.Val2651Asp
ENST00000520401.1:c.231-13103T>A
NM_000038.5:c.7952T>A	NP_000029.2:p.Val2651Asp
NM_001127510.2:c.7952T>A	NP_001120982.1:p.Val2651Asp
NM_001127511.2:c.7898T>A	NP_001120983.2:p.Val2633Asp
NM_001354895.1:c.7952T>A	NP_001341824.1:p.Val2651Asp
NM_001354896.1:c.8006T>A	NP_001341825.1:p.Val2669Asp
NM_001354897.1:c.7982T>A	NP_001341826.1:p.Val2661Asp
NM_001354898.1:c.7877T>A	NP_001341827.1:p.Val2626Asp
NM_001354899.1:c.7868T>A	NP_001341828.1:p.Val2623Asp
NM_001354900.1:c.7829T>A	NP_001341829.1:p.Val2610Asp
NM_001354901.1:c.7775T>A	NP_001341830.1:p.Val2592Asp
NM_001354902.1:c.7679T>A	NP_001341831.1:p.Val2560Asp
NM_001354903.1:c.7649T>A	NP_001341832.1:p.Val2550Asp
NM_001354904.1:c.7574T>A	NP_001341833.1:p.Val2525Asp
NM_001354905.1:c.7472T>A	NP_001341834.1:p.Val2491Asp
NM_001354906.1:c.7103T>A	NP_001341835.1:p.Val2368Asp
NM_000038.6:c.7952T>A MANE Select	NP_000029.2:p.Val2651Asp
NM_001127510.3:c.7952T>A	NP_001120982.1:p.Val2651Asp
NM_001127511.3:c.7898T>A	NP_001120983.2:p.Val2633Asp
NM_001354895.2:c.7952T>A	NP_001341824.1:p.Val2651Asp
NM_001354896.2:c.8006T>A	NP_001341825.1:p.Val2669Asp
NM_001354897.2:c.7982T>A	NP_001341826.1:p.Val2661Asp
NM_001354898.2:c.7877T>A	NP_001341827.1:p.Val2626Asp
NM_001354899.2:c.7868T>A	NP_001341828.1:p.Val2623Asp
NM_001354900.2:c.7829T>A	NP_001341829.1:p.Val2610Asp
NM_001354901.2:c.7775T>A	NP_001341830.1:p.Val2592Asp
NM_001354902.2:c.7679T>A	NP_001341831.1:p.Val2560Asp
NM_001354903.2:c.7649T>A	NP_001341832.1:p.Val2550Asp
NM_001354904.2:c.7574T>A	NP_001341833.1:p.Val2525Asp
NM_001354905.2:c.7472T>A	NP_001341834.1:p.Val2491Asp
NM_001354906.2:c.7103T>A	NP_001341835.1:p.Val2368Asp