Canonical Allele Identifier: CA16029720

Gene: APC

Linked Data

• dbSNP Id: rs2149899752
• gnomAD v4: 5-112839417-A-G
• MyVariant Identifiers: chr5:g.112175114A>G (hg19) ; chr5:g.112839417A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112839417A>G , CM000667.2:g.112839417A>G	GRCh38
NC_000005.9:g.112175114A>G , CM000667.1:g.112175114A>G	GRCh37
NC_000005.8:g.112203013A>G	NCBI36
NG_008481.4:g.151897A>G , LRG_130:g.151897A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000502371.3:c.3488A>G	ENSP00000484935.2:n.3488A>G
ENST00000504915.3:c.3877A>G	ENSP00000473355.2:p.Ser1293Gly
ENST00000505350.2:c.*3829A>G	ENSP00000481752.1:n.*3829A>G
ENST00000507379.6:c.3769A>G	ENSP00000423224.2:p.Ser1257Gly
ENST00000509732.6:c.3823A>G	ENSP00000426541.2:p.Ser1275Gly
ENST00000512211.7:c.3823A>G	ENSP00000423828.3:p.Ser1275Gly
ENST00000257430.9:c.3823A>G MANE Select	ENSP00000257430.4:p.Ser1275Gly
ENST00000257430.8:c.3823A>G	ENSP00000257430.4:p.Ser1275Gly
ENST00000502371.2:c.2176A>G
ENST00000508376.6:c.3823A>G	ENSP00000427089.2:p.Ser1275Gly
ENST00000508624.5:c.*3145A>G	ENSP00000424265.1:n.*3145A>G
ENST00000512211.6:c.3823A>G	ENSP00000423828.2:p.Ser1275Gly
ENST00000520401.1:c.230+10445A>G
NM_000038.5:c.3823A>G	NP_000029.2:p.Ser1275Gly
NM_001127510.2:c.3823A>G	NP_001120982.1:p.Ser1275Gly
NM_001127511.2:c.3769A>G	NP_001120983.2:p.Ser1257Gly
NM_001354895.1:c.3823A>G	NP_001341824.1:p.Ser1275Gly
NM_001354896.1:c.3877A>G	NP_001341825.1:p.Ser1293Gly
NM_001354897.1:c.3853A>G	NP_001341826.1:p.Ser1285Gly
NM_001354898.1:c.3748A>G	NP_001341827.1:p.Ser1250Gly
NM_001354899.1:c.3739A>G	NP_001341828.1:p.Ser1247Gly
NM_001354900.1:c.3700A>G	NP_001341829.1:p.Ser1234Gly
NM_001354901.1:c.3646A>G	NP_001341830.1:p.Ser1216Gly
NM_001354902.1:c.3550A>G	NP_001341831.1:p.Ser1184Gly
NM_001354903.1:c.3520A>G	NP_001341832.1:p.Ser1174Gly
NM_001354904.1:c.3445A>G	NP_001341833.1:p.Ser1149Gly
NM_001354905.1:c.3343A>G	NP_001341834.1:p.Ser1115Gly
NM_001354906.1:c.2974A>G	NP_001341835.1:p.Ser992Gly
NM_000038.6:c.3823A>G MANE Select	NP_000029.2:p.Ser1275Gly
NM_001127510.3:c.3823A>G	NP_001120982.1:p.Ser1275Gly
NM_001127511.3:c.3769A>G	NP_001120983.2:p.Ser1257Gly
NM_001354895.2:c.3823A>G	NP_001341824.1:p.Ser1275Gly
NM_001354896.2:c.3877A>G	NP_001341825.1:p.Ser1293Gly
NM_001354897.2:c.3853A>G	NP_001341826.1:p.Ser1285Gly
NM_001354898.2:c.3748A>G	NP_001341827.1:p.Ser1250Gly
NM_001354899.2:c.3739A>G	NP_001341828.1:p.Ser1247Gly
NM_001354900.2:c.3700A>G	NP_001341829.1:p.Ser1234Gly
NM_001354901.2:c.3646A>G	NP_001341830.1:p.Ser1216Gly
NM_001354902.2:c.3550A>G	NP_001341831.1:p.Ser1184Gly
NM_001354903.2:c.3520A>G	NP_001341832.1:p.Ser1174Gly
NM_001354904.2:c.3445A>G	NP_001341833.1:p.Ser1149Gly
NM_001354905.2:c.3343A>G	NP_001341834.1:p.Ser1115Gly
NM_001354906.2:c.2974A>G	NP_001341835.1:p.Ser992Gly