Canonical Allele Identifier: CA16025737

Gene: APC

Linked Data

• ClinVar Variation Id: 537472
• ClinVar RCV Id: RCV003538456
• dbSNP Id: rs1554083898
• MyVariant Identifiers: chr5:g.112173312T>A (hg19) ; chr5:g.112837615T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112837615T>A , CM000667.2:g.112837615T>A	GRCh38
NC_000005.9:g.112173312T>A , CM000667.1:g.112173312T>A	GRCh37
NC_000005.8:g.112201211T>A	NCBI36
NG_008481.4:g.150095T>A , LRG_130:g.150095T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502371.3:c.1686T>A	ENSP00000484935.2:n.1686T>A
ENST00000504915.3:c.2075T>A	ENSP00000473355.2:p.Leu692Ter
ENST00000505350.2:c.*2027T>A	ENSP00000481752.1:n.*2027T>A
ENST00000507379.6:c.1967T>A	ENSP00000423224.2:p.Leu656Ter
ENST00000509732.6:c.2021T>A	ENSP00000426541.2:p.Leu674Ter
ENST00000512211.7:c.2021T>A	ENSP00000423828.3:p.Leu674Ter
ENST00000257430.9:c.2021T>A MANE Select	ENSP00000257430.4:p.Leu674Ter
ENST00000257430.8:c.2021T>A	ENSP00000257430.4:p.Leu674Ter
ENST00000502371.2:c.374T>A
ENST00000504915.2:c.710T>A	ENSP00000473355.1:p.Leu237Ter
ENST00000507379.5:c.1967T>A	ENSP00000423224.1:p.Leu656Ter
ENST00000508376.6:c.2021T>A	ENSP00000427089.2:p.Leu674Ter
ENST00000508624.5:c.*1343T>A	ENSP00000424265.1:n.*1343T>A
ENST00000512211.6:c.2021T>A	ENSP00000423828.2:p.Leu674Ter
ENST00000520401.1:c.230+8643T>A
NM_000038.5:c.2021T>A	NP_000029.2:p.Leu674Ter
NM_001127510.2:c.2021T>A	NP_001120982.1:p.Leu674Ter
NM_001127511.2:c.1967T>A	NP_001120983.2:p.Leu656Ter
NM_001354895.1:c.2021T>A	NP_001341824.1:p.Leu674Ter
NM_001354896.1:c.2075T>A	NP_001341825.1:p.Leu692Ter
NM_001354897.1:c.2051T>A	NP_001341826.1:p.Leu684Ter
NM_001354898.1:c.1946T>A	NP_001341827.1:p.Leu649Ter
NM_001354899.1:c.1937T>A	NP_001341828.1:p.Leu646Ter
NM_001354900.1:c.1898T>A	NP_001341829.1:p.Leu633Ter
NM_001354901.1:c.1844T>A	NP_001341830.1:p.Leu615Ter
NM_001354902.1:c.1748T>A	NP_001341831.1:p.Leu583Ter
NM_001354903.1:c.1718T>A	NP_001341832.1:p.Leu573Ter
NM_001354904.1:c.1643T>A	NP_001341833.1:p.Leu548Ter
NM_001354905.1:c.1541T>A	NP_001341834.1:p.Leu514Ter
NM_001354906.1:c.1172T>A	NP_001341835.1:p.Leu391Ter
NM_000038.6:c.2021T>A MANE Select	NP_000029.2:p.Leu674Ter
NM_001127510.3:c.2021T>A	NP_001120982.1:p.Leu674Ter
NM_001127511.3:c.1967T>A	NP_001120983.2:p.Leu656Ter
NM_001354895.2:c.2021T>A	NP_001341824.1:p.Leu674Ter
NM_001354896.2:c.2075T>A	NP_001341825.1:p.Leu692Ter
NM_001354897.2:c.2051T>A	NP_001341826.1:p.Leu684Ter
NM_001354898.2:c.1946T>A	NP_001341827.1:p.Leu649Ter
NM_001354899.2:c.1937T>A	NP_001341828.1:p.Leu646Ter
NM_001354900.2:c.1898T>A	NP_001341829.1:p.Leu633Ter
NM_001354901.2:c.1844T>A	NP_001341830.1:p.Leu615Ter
NM_001354902.2:c.1748T>A	NP_001341831.1:p.Leu583Ter
NM_001354903.2:c.1718T>A	NP_001341832.1:p.Leu573Ter
NM_001354904.2:c.1643T>A	NP_001341833.1:p.Leu548Ter
NM_001354905.2:c.1541T>A	NP_001341834.1:p.Leu514Ter
NM_001354906.2:c.1172T>A	NP_001341835.1:p.Leu391Ter