Canonical Allele Identifier: CA446208720

Gene: APC

Linked Data

• ClinVar Variation Id: 2806458
• ClinVar RCV Id: RCV003745968 ; RCV004371635
• dbSNP Id: rs2149928525
• MyVariant Identifiers: chr5:g.112176250A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112840553A>G , CM000667.2:g.112840553A>G	GRCh38
NC_000005.9:g.112176250A>G , CM000667.1:g.112176250A>G	GRCh37
NC_000005.8:g.112204149A>G	NCBI36
NG_008481.4:g.153033A>G , LRG_130:g.153033A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.5013A>G	ENSP00000473355.2:p.Thr1671=
ENST00000505350.2:c.*4965A>G	ENSP00000481752.1:n.*4965A>G
ENST00000507379.6:c.4905A>G	ENSP00000423224.2:p.Thr1635=
ENST00000509732.6:c.4959A>G	ENSP00000426541.2:p.Thr1653=
ENST00000512211.7:c.4959A>G	ENSP00000423828.3:p.Thr1653=
ENST00000257430.9:c.4959A>G MANE Select	ENSP00000257430.4:p.Thr1653=
ENST00000257430.8:c.4959A>G	ENSP00000257430.4:p.Thr1653=
ENST00000508376.6:c.4959A>G	ENSP00000427089.2:p.Thr1653=
ENST00000508624.5:c.*4281A>G	ENSP00000424265.1:n.*4281A>G
ENST00000520401.1:c.230+11581A>G
NM_000038.5:c.4959A>G	NP_000029.2:p.Thr1653=
NM_001127510.2:c.4959A>G	NP_001120982.1:p.Thr1653=
NM_001127511.2:c.4905A>G	NP_001120983.2:p.Thr1635=
NM_001354895.1:c.4959A>G	NP_001341824.1:p.Thr1653=
NM_001354896.1:c.5013A>G	NP_001341825.1:p.Thr1671=
NM_001354897.1:c.4989A>G	NP_001341826.1:p.Thr1663=
NM_001354898.1:c.4884A>G	NP_001341827.1:p.Thr1628=
NM_001354899.1:c.4875A>G	NP_001341828.1:p.Thr1625=
NM_001354900.1:c.4836A>G	NP_001341829.1:p.Thr1612=
NM_001354901.1:c.4782A>G	NP_001341830.1:p.Thr1594=
NM_001354902.1:c.4686A>G	NP_001341831.1:p.Thr1562=
NM_001354903.1:c.4656A>G	NP_001341832.1:p.Thr1552=
NM_001354904.1:c.4581A>G	NP_001341833.1:p.Thr1527=
NM_001354905.1:c.4479A>G	NP_001341834.1:p.Thr1493=
NM_001354906.1:c.4110A>G	NP_001341835.1:p.Thr1370=
NM_000038.6:c.4959A>G MANE Select	NP_000029.2:p.Thr1653=
NM_001127510.3:c.4959A>G	NP_001120982.1:p.Thr1653=
NM_001127511.3:c.4905A>G	NP_001120983.2:p.Thr1635=
NM_001354895.2:c.4959A>G	NP_001341824.1:p.Thr1653=
NM_001354896.2:c.5013A>G	NP_001341825.1:p.Thr1671=
NM_001354897.2:c.4989A>G	NP_001341826.1:p.Thr1663=
NM_001354898.2:c.4884A>G	NP_001341827.1:p.Thr1628=
NM_001354899.2:c.4875A>G	NP_001341828.1:p.Thr1625=
NM_001354900.2:c.4836A>G	NP_001341829.1:p.Thr1612=
NM_001354901.2:c.4782A>G	NP_001341830.1:p.Thr1594=
NM_001354902.2:c.4686A>G	NP_001341831.1:p.Thr1562=
NM_001354903.2:c.4656A>G	NP_001341832.1:p.Thr1552=
NM_001354904.2:c.4581A>G	NP_001341833.1:p.Thr1527=
NM_001354905.2:c.4479A>G	NP_001341834.1:p.Thr1493=
NM_001354906.2:c.4110A>G	NP_001341835.1:p.Thr1370=