Canonical Allele Identifier: CA16025260

Gene: APC

Linked Data

• ClinVar Variation Id: 1387554
• ClinVar RCV Id: RCV001884113
• dbSNP Id: rs2149841665
• MyVariant Identifiers: chr5:g.112170705G>T (hg19) ; chr5:g.112835008G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112835008G>T , CM000667.2:g.112835008G>T	GRCh38
NC_000005.9:g.112170705G>T , CM000667.1:g.112170705G>T	GRCh37
NC_000005.8:g.112198604G>T	NCBI36
NG_008481.4:g.147488G>T , LRG_130:g.147488G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000502371.3:c.1466G>T	ENSP00000484935.2:p.Ter489Leu
ENST00000504915.3:c.1855G>T	ENSP00000473355.2:p.Glu619Ter
ENST00000505350.2:c.*1807G>T	ENSP00000481752.1:n.*1807G>T
ENST00000507379.6:c.1747G>T	ENSP00000423224.2:p.Glu583Ter
ENST00000509732.6:c.1801G>T	ENSP00000426541.2:p.Glu601Ter
ENST00000512211.7:c.1801G>T	ENSP00000423828.3:p.Glu601Ter
ENST00000257430.9:c.1801G>T MANE Select	ENSP00000257430.4:p.Glu601Ter
ENST00000257430.8:c.1801G>T	ENSP00000257430.4:p.Glu601Ter
ENST00000502371.2:c.154G>T
ENST00000504915.2:c.490G>T	ENSP00000473355.1:p.Glu164Ter
ENST00000507379.5:c.1747G>T	ENSP00000423224.1:p.Glu583Ter
ENST00000508376.6:c.1801G>T	ENSP00000427089.2:p.Glu601Ter
ENST00000508624.5:c.*1123G>T	ENSP00000424265.1:n.*1123G>T
ENST00000512211.6:c.1801G>T	ENSP00000423828.2:p.Glu601Ter
ENST00000520401.1:c.230+6036G>T
NM_000038.5:c.1801G>T	NP_000029.2:p.Glu601Ter
NM_001127510.2:c.1801G>T	NP_001120982.1:p.Glu601Ter
NM_001127511.2:c.1747G>T	NP_001120983.2:p.Glu583Ter
NM_001354895.1:c.1801G>T	NP_001341824.1:p.Glu601Ter
NM_001354896.1:c.1855G>T	NP_001341825.1:p.Glu619Ter
NM_001354897.1:c.1831G>T	NP_001341826.1:p.Glu611Ter
NM_001354898.1:c.1726G>T	NP_001341827.1:p.Glu576Ter
NM_001354899.1:c.1717G>T	NP_001341828.1:p.Glu573Ter
NM_001354900.1:c.1678G>T	NP_001341829.1:p.Glu560Ter
NM_001354901.1:c.1624G>T	NP_001341830.1:p.Glu542Ter
NM_001354902.1:c.1528G>T	NP_001341831.1:p.Glu510Ter
NM_001354903.1:c.1498G>T	NP_001341832.1:p.Glu500Ter
NM_001354904.1:c.1423G>T	NP_001341833.1:p.Glu475Ter
NM_001354905.1:c.1321G>T	NP_001341834.1:p.Glu441Ter
NM_001354906.1:c.952G>T	NP_001341835.1:p.Glu318Ter
NM_000038.6:c.1801G>T MANE Select	NP_000029.2:p.Glu601Ter
NM_001127510.3:c.1801G>T	NP_001120982.1:p.Glu601Ter
NM_001127511.3:c.1747G>T	NP_001120983.2:p.Glu583Ter
NM_001354895.2:c.1801G>T	NP_001341824.1:p.Glu601Ter
NM_001354896.2:c.1855G>T	NP_001341825.1:p.Glu619Ter
NM_001354897.2:c.1831G>T	NP_001341826.1:p.Glu611Ter
NM_001354898.2:c.1726G>T	NP_001341827.1:p.Glu576Ter
NM_001354899.2:c.1717G>T	NP_001341828.1:p.Glu573Ter
NM_001354900.2:c.1678G>T	NP_001341829.1:p.Glu560Ter
NM_001354901.2:c.1624G>T	NP_001341830.1:p.Glu542Ter
NM_001354902.2:c.1528G>T	NP_001341831.1:p.Glu510Ter
NM_001354903.2:c.1498G>T	NP_001341832.1:p.Glu500Ter
NM_001354904.2:c.1423G>T	NP_001341833.1:p.Glu475Ter
NM_001354905.2:c.1321G>T	NP_001341834.1:p.Glu441Ter
NM_001354906.2:c.952G>T	NP_001341835.1:p.Glu318Ter