Canonical Allele Identifier: CA16024904

Gene: APC

Linked Data

• MyVariant Identifiers: chr5:g.112164572G>C (hg19) ; chr5:g.112828875G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112828875G>C , CM000667.2:g.112828875G>C	GRCh38
NC_000005.9:g.112164572G>C , CM000667.1:g.112164572G>C	GRCh37
NC_000005.8:g.112192471G>C	NCBI36
NG_008481.4:g.141355G>C , LRG_130:g.141355G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000502371.3:c.1409-6076G>C	ENSP00000484935.2:n.1409-6076G>C
ENST00000504915.3:c.1700G>C	ENSP00000473355.2:p.Arg567Thr
ENST00000505084.2:n.1702G>C
ENST00000505350.2:c.*1652G>C	ENSP00000481752.1:n.*1652G>C
ENST00000507379.6:c.1592G>C	ENSP00000423224.2:p.Arg531Thr
ENST00000509732.6:c.1646G>C	ENSP00000426541.2:p.Arg549Thr
ENST00000512211.7:c.1646G>C	ENSP00000423828.3:p.Arg549Thr
ENST00000257430.9:c.1646G>C MANE Select	ENSP00000257430.4:p.Arg549Thr
ENST00000257430.8:c.1646G>C	ENSP00000257430.4:p.Arg549Thr
ENST00000502371.2:c.97-6076G>C
ENST00000504915.2:c.335G>C	ENSP00000473355.1:p.Arg112Thr
ENST00000505084.1:n.133G>C
ENST00000507379.5:c.1592G>C	ENSP00000423224.1:p.Arg531Thr
ENST00000508376.6:c.1646G>C	ENSP00000427089.2:p.Arg549Thr
ENST00000508624.5:c.*968G>C	ENSP00000424265.1:n.*968G>C
ENST00000512211.6:c.1646G>C	ENSP00000423828.2:p.Arg549Thr
ENST00000520401.1:c.133G>C
NM_000038.5:c.1646G>C	NP_000029.2:p.Arg549Thr
NM_001127510.2:c.1646G>C	NP_001120982.1:p.Arg549Thr
NM_001127511.2:c.1592G>C	NP_001120983.2:p.Arg531Thr
NM_001354895.1:c.1646G>C	NP_001341824.1:p.Arg549Thr
NM_001354896.1:c.1700G>C	NP_001341825.1:p.Arg567Thr
NM_001354897.1:c.1676G>C	NP_001341826.1:p.Arg559Thr
NM_001354898.1:c.1571G>C	NP_001341827.1:p.Arg524Thr
NM_001354899.1:c.1562G>C	NP_001341828.1:p.Arg521Thr
NM_001354900.1:c.1523G>C	NP_001341829.1:p.Arg508Thr
NM_001354901.1:c.1469G>C	NP_001341830.1:p.Arg490Thr
NM_001354902.1:c.1373G>C	NP_001341831.1:p.Arg458Thr
NM_001354903.1:c.1343G>C	NP_001341832.1:p.Arg448Thr
NM_001354904.1:c.1268G>C	NP_001341833.1:p.Arg423Thr
NM_001354905.1:c.1166G>C	NP_001341834.1:p.Arg389Thr
NM_001354906.1:c.797G>C	NP_001341835.1:p.Arg266Thr
NM_000038.6:c.1646G>C MANE Select	NP_000029.2:p.Arg549Thr
NM_001127510.3:c.1646G>C	NP_001120982.1:p.Arg549Thr
NM_001127511.3:c.1592G>C	NP_001120983.2:p.Arg531Thr
NM_001354895.2:c.1646G>C	NP_001341824.1:p.Arg549Thr
NM_001354896.2:c.1700G>C	NP_001341825.1:p.Arg567Thr
NM_001354897.2:c.1676G>C	NP_001341826.1:p.Arg559Thr
NM_001354898.2:c.1571G>C	NP_001341827.1:p.Arg524Thr
NM_001354899.2:c.1562G>C	NP_001341828.1:p.Arg521Thr
NM_001354900.2:c.1523G>C	NP_001341829.1:p.Arg508Thr
NM_001354901.2:c.1469G>C	NP_001341830.1:p.Arg490Thr
NM_001354902.2:c.1373G>C	NP_001341831.1:p.Arg458Thr
NM_001354903.2:c.1343G>C	NP_001341832.1:p.Arg448Thr
NM_001354904.2:c.1268G>C	NP_001341833.1:p.Arg423Thr
NM_001354905.2:c.1166G>C	NP_001341834.1:p.Arg389Thr
NM_001354906.2:c.797G>C	NP_001341835.1:p.Arg266Thr