Canonical Allele Identifier: CA16025561

Gene: APC

Linked Data

• dbSNP Id: rs2149844323
• MyVariant Identifiers: chr5:g.112170847C>A (hg19) ; chr5:g.112835150C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112835150C>A , CM000667.2:g.112835150C>A	GRCh38
NC_000005.9:g.112170847C>A , CM000667.1:g.112170847C>A	GRCh37
NC_000005.8:g.112198746C>A	NCBI36
NG_008481.4:g.147630C>A , LRG_130:g.147630C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502371.3:c.1608C>A	ENSP00000484935.2:n.1608C>A
ENST00000504915.3:c.1997C>A	ENSP00000473355.2:p.Thr666Lys
ENST00000505350.2:c.*1949C>A	ENSP00000481752.1:n.*1949C>A
ENST00000507379.6:c.1889C>A	ENSP00000423224.2:p.Thr630Lys
ENST00000509732.6:c.1943C>A	ENSP00000426541.2:p.Thr648Lys
ENST00000512211.7:c.1943C>A	ENSP00000423828.3:p.Thr648Lys
ENST00000257430.9:c.1943C>A MANE Select	ENSP00000257430.4:p.Thr648Lys
ENST00000257430.8:c.1943C>A	ENSP00000257430.4:p.Thr648Lys
ENST00000502371.2:c.296C>A
ENST00000504915.2:c.632C>A	ENSP00000473355.1:p.Thr211Lys
ENST00000507379.5:c.1889C>A	ENSP00000423224.1:p.Thr630Lys
ENST00000508376.6:c.1943C>A	ENSP00000427089.2:p.Thr648Lys
ENST00000508624.5:c.*1265C>A	ENSP00000424265.1:n.*1265C>A
ENST00000512211.6:c.1943C>A	ENSP00000423828.2:p.Thr648Lys
ENST00000520401.1:c.230+6178C>A
NM_000038.5:c.1943C>A	NP_000029.2:p.Thr648Lys
NM_001127510.2:c.1943C>A	NP_001120982.1:p.Thr648Lys
NM_001127511.2:c.1889C>A	NP_001120983.2:p.Thr630Lys
NM_001354895.1:c.1943C>A	NP_001341824.1:p.Thr648Lys
NM_001354896.1:c.1997C>A	NP_001341825.1:p.Thr666Lys
NM_001354897.1:c.1973C>A	NP_001341826.1:p.Thr658Lys
NM_001354898.1:c.1868C>A	NP_001341827.1:p.Thr623Lys
NM_001354899.1:c.1859C>A	NP_001341828.1:p.Thr620Lys
NM_001354900.1:c.1820C>A	NP_001341829.1:p.Thr607Lys
NM_001354901.1:c.1766C>A	NP_001341830.1:p.Thr589Lys
NM_001354902.1:c.1670C>A	NP_001341831.1:p.Thr557Lys
NM_001354903.1:c.1640C>A	NP_001341832.1:p.Thr547Lys
NM_001354904.1:c.1565C>A	NP_001341833.1:p.Thr522Lys
NM_001354905.1:c.1463C>A	NP_001341834.1:p.Thr488Lys
NM_001354906.1:c.1094C>A	NP_001341835.1:p.Thr365Lys
NM_000038.6:c.1943C>A MANE Select	NP_000029.2:p.Thr648Lys
NM_001127510.3:c.1943C>A	NP_001120982.1:p.Thr648Lys
NM_001127511.3:c.1889C>A	NP_001120983.2:p.Thr630Lys
NM_001354895.2:c.1943C>A	NP_001341824.1:p.Thr648Lys
NM_001354896.2:c.1997C>A	NP_001341825.1:p.Thr666Lys
NM_001354897.2:c.1973C>A	NP_001341826.1:p.Thr658Lys
NM_001354898.2:c.1868C>A	NP_001341827.1:p.Thr623Lys
NM_001354899.2:c.1859C>A	NP_001341828.1:p.Thr620Lys
NM_001354900.2:c.1820C>A	NP_001341829.1:p.Thr607Lys
NM_001354901.2:c.1766C>A	NP_001341830.1:p.Thr589Lys
NM_001354902.2:c.1670C>A	NP_001341831.1:p.Thr557Lys
NM_001354903.2:c.1640C>A	NP_001341832.1:p.Thr547Lys
NM_001354904.2:c.1565C>A	NP_001341833.1:p.Thr522Lys
NM_001354905.2:c.1463C>A	NP_001341834.1:p.Thr488Lys
NM_001354906.2:c.1094C>A	NP_001341835.1:p.Thr365Lys