Canonical Allele Identifier: CA16038600

Gene: APC

Linked Data

• ClinVar Variation Id: 2773680
• ClinVar RCV Id: RCV003585653
• dbSNP Id: rs2149996861
• MyVariant Identifiers: chr5:g.112179243T>C (hg19) ; chr5:g.112843546T>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.8006T>C	ENSP00000473355.2:p.Val2669Ala
ENST00000505350.2:c.*7958T>C	ENSP00000481752.1:n.*7958T>C
ENST00000507379.6:c.7898T>C	ENSP00000423224.2:p.Val2633Ala
ENST00000509732.6:c.7952T>C	ENSP00000426541.2:p.Val2651Ala
ENST00000512211.7:c.7952T>C	ENSP00000423828.3:p.Val2651Ala
ENST00000257430.9:c.7952T>C MANE Select	ENSP00000257430.4:p.Val2651Ala
ENST00000257430.8:c.7952T>C	ENSP00000257430.4:p.Val2651Ala
ENST00000508376.6:c.7952T>C	ENSP00000427089.2:p.Val2651Ala
ENST00000520401.1:c.231-13103T>C
NM_000038.5:c.7952T>C	NP_000029.2:p.Val2651Ala
NM_001127510.2:c.7952T>C	NP_001120982.1:p.Val2651Ala
NM_001127511.2:c.7898T>C	NP_001120983.2:p.Val2633Ala
NM_001354895.1:c.7952T>C	NP_001341824.1:p.Val2651Ala
NM_001354896.1:c.8006T>C	NP_001341825.1:p.Val2669Ala
NM_001354897.1:c.7982T>C	NP_001341826.1:p.Val2661Ala
NM_001354898.1:c.7877T>C	NP_001341827.1:p.Val2626Ala
NM_001354899.1:c.7868T>C	NP_001341828.1:p.Val2623Ala
NM_001354900.1:c.7829T>C	NP_001341829.1:p.Val2610Ala
NM_001354901.1:c.7775T>C	NP_001341830.1:p.Val2592Ala
NM_001354902.1:c.7679T>C	NP_001341831.1:p.Val2560Ala
NM_001354903.1:c.7649T>C	NP_001341832.1:p.Val2550Ala
NM_001354904.1:c.7574T>C	NP_001341833.1:p.Val2525Ala
NM_001354905.1:c.7472T>C	NP_001341834.1:p.Val2491Ala
NM_001354906.1:c.7103T>C	NP_001341835.1:p.Val2368Ala
NM_000038.6:c.7952T>C MANE Select	NP_000029.2:p.Val2651Ala
NM_001127510.3:c.7952T>C	NP_001120982.1:p.Val2651Ala
NM_001127511.3:c.7898T>C	NP_001120983.2:p.Val2633Ala
NM_001354895.2:c.7952T>C	NP_001341824.1:p.Val2651Ala
NM_001354896.2:c.8006T>C	NP_001341825.1:p.Val2669Ala
NM_001354897.2:c.7982T>C	NP_001341826.1:p.Val2661Ala
NM_001354898.2:c.7877T>C	NP_001341827.1:p.Val2626Ala
NM_001354899.2:c.7868T>C	NP_001341828.1:p.Val2623Ala
NM_001354900.2:c.7829T>C	NP_001341829.1:p.Val2610Ala
NM_001354901.2:c.7775T>C	NP_001341830.1:p.Val2592Ala
NM_001354902.2:c.7679T>C	NP_001341831.1:p.Val2560Ala
NM_001354903.2:c.7649T>C	NP_001341832.1:p.Val2550Ala
NM_001354904.2:c.7574T>C	NP_001341833.1:p.Val2525Ala
NM_001354905.2:c.7472T>C	NP_001341834.1:p.Val2491Ala
NM_001354906.2:c.7103T>C	NP_001341835.1:p.Val2368Ala