Canonical Allele Identifier: CA16030957

Gene: APC

Linked Data

• dbSNP Id: rs779898882
• COSMIC: COSM26699
• MyVariant Identifiers: chr5:g.112175686T>G (hg19) ; chr5:g.112839989T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112839989T>G , CM000667.2:g.112839989T>G	GRCh38
NC_000005.9:g.112175686T>G , CM000667.1:g.112175686T>G	GRCh37
NC_000005.8:g.112203585T>G	NCBI36
NG_008481.4:g.152469T>G , LRG_130:g.152469T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.4449T>G	ENSP00000473355.2:p.Ser1483Arg
ENST00000505350.2:c.*4401T>G	ENSP00000481752.1:n.*4401T>G
ENST00000507379.6:c.4341T>G	ENSP00000423224.2:p.Ser1447Arg
ENST00000509732.6:c.4395T>G	ENSP00000426541.2:p.Ser1465Arg
ENST00000512211.7:c.4395T>G	ENSP00000423828.3:p.Ser1465Arg
ENST00000257430.9:c.4395T>G MANE Select	ENSP00000257430.4:p.Ser1465Arg
ENST00000257430.8:c.4395T>G	ENSP00000257430.4:p.Ser1465Arg
ENST00000508376.6:c.4395T>G	ENSP00000427089.2:p.Ser1465Arg
ENST00000508624.5:c.*3717T>G	ENSP00000424265.1:n.*3717T>G
ENST00000520401.1:c.230+11017T>G
NM_000038.5:c.4395T>G	NP_000029.2:p.Ser1465Arg
NM_001127510.2:c.4395T>G	NP_001120982.1:p.Ser1465Arg
NM_001127511.2:c.4341T>G	NP_001120983.2:p.Ser1447Arg
NM_001354895.1:c.4395T>G	NP_001341824.1:p.Ser1465Arg
NM_001354896.1:c.4449T>G	NP_001341825.1:p.Ser1483Arg
NM_001354897.1:c.4425T>G	NP_001341826.1:p.Ser1475Arg
NM_001354898.1:c.4320T>G	NP_001341827.1:p.Ser1440Arg
NM_001354899.1:c.4311T>G	NP_001341828.1:p.Ser1437Arg
NM_001354900.1:c.4272T>G	NP_001341829.1:p.Ser1424Arg
NM_001354901.1:c.4218T>G	NP_001341830.1:p.Ser1406Arg
NM_001354902.1:c.4122T>G	NP_001341831.1:p.Ser1374Arg
NM_001354903.1:c.4092T>G	NP_001341832.1:p.Ser1364Arg
NM_001354904.1:c.4017T>G	NP_001341833.1:p.Ser1339Arg
NM_001354905.1:c.3915T>G	NP_001341834.1:p.Ser1305Arg
NM_001354906.1:c.3546T>G	NP_001341835.1:p.Ser1182Arg
NM_000038.6:c.4395T>G MANE Select	NP_000029.2:p.Ser1465Arg
NM_001127510.3:c.4395T>G	NP_001120982.1:p.Ser1465Arg
NM_001127511.3:c.4341T>G	NP_001120983.2:p.Ser1447Arg
NM_001354895.2:c.4395T>G	NP_001341824.1:p.Ser1465Arg
NM_001354896.2:c.4449T>G	NP_001341825.1:p.Ser1483Arg
NM_001354897.2:c.4425T>G	NP_001341826.1:p.Ser1475Arg
NM_001354898.2:c.4320T>G	NP_001341827.1:p.Ser1440Arg
NM_001354899.2:c.4311T>G	NP_001341828.1:p.Ser1437Arg
NM_001354900.2:c.4272T>G	NP_001341829.1:p.Ser1424Arg
NM_001354901.2:c.4218T>G	NP_001341830.1:p.Ser1406Arg
NM_001354902.2:c.4122T>G	NP_001341831.1:p.Ser1374Arg
NM_001354903.2:c.4092T>G	NP_001341832.1:p.Ser1364Arg
NM_001354904.2:c.4017T>G	NP_001341833.1:p.Ser1339Arg
NM_001354905.2:c.3915T>G	NP_001341834.1:p.Ser1305Arg
NM_001354906.2:c.3546T>G	NP_001341835.1:p.Ser1182Arg