Canonical Allele Identifier: CA445757393

Gene: APC

Linked Data

• ClinVar Variation Id: 924306
• ClinVar RCV Id: RCV001185589
• dbSNP Id: rs1764013636
• MyVariant Identifiers: chr5:g.112164591A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112828894A>G , CM000667.2:g.112828894A>G	GRCh38
NC_000005.9:g.112164591A>G , CM000667.1:g.112164591A>G	GRCh37
NC_000005.8:g.112192490A>G	NCBI36
NG_008481.4:g.141374A>G , LRG_130:g.141374A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502371.3:c.1409-6057A>G	ENSP00000484935.2:n.1409-6057A>G
ENST00000504915.3:c.1719A>G	ENSP00000473355.2:p.Ala573=
ENST00000505084.2:n.1721A>G
ENST00000505350.2:c.*1671A>G	ENSP00000481752.1:n.*1671A>G
ENST00000507379.6:c.1611A>G	ENSP00000423224.2:p.Ala537=
ENST00000509732.6:c.1665A>G	ENSP00000426541.2:p.Ala555=
ENST00000512211.7:c.1665A>G	ENSP00000423828.3:p.Ala555=
ENST00000257430.9:c.1665A>G MANE Select	ENSP00000257430.4:p.Ala555=
ENST00000257430.8:c.1665A>G	ENSP00000257430.4:p.Ala555=
ENST00000502371.2:c.97-6057A>G
ENST00000504915.2:c.354A>G	ENSP00000473355.1:p.Ala118=
ENST00000505084.1:n.152A>G
ENST00000507379.5:c.1611A>G	ENSP00000423224.1:p.Ala537=
ENST00000508376.6:c.1665A>G	ENSP00000427089.2:p.Ala555=
ENST00000508624.5:c.*987A>G	ENSP00000424265.1:n.*987A>G
ENST00000512211.6:c.1665A>G	ENSP00000423828.2:p.Ala555=
ENST00000520401.1:c.152A>G
NM_000038.5:c.1665A>G	NP_000029.2:p.Ala555=
NM_001127510.2:c.1665A>G	NP_001120982.1:p.Ala555=
NM_001127511.2:c.1611A>G	NP_001120983.2:p.Ala537=
NM_001354895.1:c.1665A>G	NP_001341824.1:p.Ala555=
NM_001354896.1:c.1719A>G	NP_001341825.1:p.Ala573=
NM_001354897.1:c.1695A>G	NP_001341826.1:p.Ala565=
NM_001354898.1:c.1590A>G	NP_001341827.1:p.Ala530=
NM_001354899.1:c.1581A>G	NP_001341828.1:p.Ala527=
NM_001354900.1:c.1542A>G	NP_001341829.1:p.Ala514=
NM_001354901.1:c.1488A>G	NP_001341830.1:p.Ala496=
NM_001354902.1:c.1392A>G	NP_001341831.1:p.Ala464=
NM_001354903.1:c.1362A>G	NP_001341832.1:p.Ala454=
NM_001354904.1:c.1287A>G	NP_001341833.1:p.Ala429=
NM_001354905.1:c.1185A>G	NP_001341834.1:p.Ala395=
NM_001354906.1:c.816A>G	NP_001341835.1:p.Ala272=
NM_000038.6:c.1665A>G MANE Select	NP_000029.2:p.Ala555=
NM_001127510.3:c.1665A>G	NP_001120982.1:p.Ala555=
NM_001127511.3:c.1611A>G	NP_001120983.2:p.Ala537=
NM_001354895.2:c.1665A>G	NP_001341824.1:p.Ala555=
NM_001354896.2:c.1719A>G	NP_001341825.1:p.Ala573=
NM_001354897.2:c.1695A>G	NP_001341826.1:p.Ala565=
NM_001354898.2:c.1590A>G	NP_001341827.1:p.Ala530=
NM_001354899.2:c.1581A>G	NP_001341828.1:p.Ala527=
NM_001354900.2:c.1542A>G	NP_001341829.1:p.Ala514=
NM_001354901.2:c.1488A>G	NP_001341830.1:p.Ala496=
NM_001354902.2:c.1392A>G	NP_001341831.1:p.Ala464=
NM_001354903.2:c.1362A>G	NP_001341832.1:p.Ala454=
NM_001354904.2:c.1287A>G	NP_001341833.1:p.Ala429=
NM_001354905.2:c.1185A>G	NP_001341834.1:p.Ala395=
NM_001354906.2:c.816A>G	NP_001341835.1:p.Ala272=