Canonical Allele Identifier: CA10584250

Gene: APC

Linked Data

• ClinVar Variation Id: 246086
• ClinVar RCV Id: RCV000236148 ; RCV002519827 ; RCV003535656
• dbSNP Id: rs879254089
• COSMIC: COSM289337
• MyVariant Identifiers: chr5:g.112174884C>G (hg19) ; chr5:g.112839187C>G (hg38)
• PubMed: PMID:9950360 ; PMID:20223039

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112839187C>G , CM000667.2:g.112839187C>G	GRCh38
NC_000005.9:g.112174884C>G , CM000667.1:g.112174884C>G	GRCh37
NC_000005.8:g.112202783C>G	NCBI36
NG_008481.4:g.151667C>G , LRG_130:g.151667C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502371.3:c.3258C>G	ENSP00000484935.2:n.3258C>G
ENST00000504915.3:c.3647C>G	ENSP00000473355.2:p.Ser1216Ter
ENST00000505350.2:c.*3599C>G	ENSP00000481752.1:n.*3599C>G
ENST00000507379.6:c.3539C>G	ENSP00000423224.2:p.Ser1180Ter
ENST00000509732.6:c.3593C>G	ENSP00000426541.2:p.Ser1198Ter
ENST00000512211.7:c.3593C>G	ENSP00000423828.3:p.Ser1198Ter
ENST00000257430.9:c.3593C>G MANE Select	ENSP00000257430.4:p.Ser1198Ter
ENST00000257430.8:c.3593C>G	ENSP00000257430.4:p.Ser1198Ter
ENST00000502371.2:c.1946C>G
ENST00000508376.6:c.3593C>G	ENSP00000427089.2:p.Ser1198Ter
ENST00000508624.5:c.*2915C>G	ENSP00000424265.1:n.*2915C>G
ENST00000512211.6:c.3593C>G	ENSP00000423828.2:p.Ser1198Ter
ENST00000520401.1:c.230+10215C>G
NM_000038.5:c.3593C>G	NP_000029.2:p.Ser1198Ter
NM_001127510.2:c.3593C>G	NP_001120982.1:p.Ser1198Ter
NM_001127511.2:c.3539C>G	NP_001120983.2:p.Ser1180Ter
NM_001354895.1:c.3593C>G	NP_001341824.1:p.Ser1198Ter
NM_001354896.1:c.3647C>G	NP_001341825.1:p.Ser1216Ter
NM_001354897.1:c.3623C>G	NP_001341826.1:p.Ser1208Ter
NM_001354898.1:c.3518C>G	NP_001341827.1:p.Ser1173Ter
NM_001354899.1:c.3509C>G	NP_001341828.1:p.Ser1170Ter
NM_001354900.1:c.3470C>G	NP_001341829.1:p.Ser1157Ter
NM_001354901.1:c.3416C>G	NP_001341830.1:p.Ser1139Ter
NM_001354902.1:c.3320C>G	NP_001341831.1:p.Ser1107Ter
NM_001354903.1:c.3290C>G	NP_001341832.1:p.Ser1097Ter
NM_001354904.1:c.3215C>G	NP_001341833.1:p.Ser1072Ter
NM_001354905.1:c.3113C>G	NP_001341834.1:p.Ser1038Ter
NM_001354906.1:c.2744C>G	NP_001341835.1:p.Ser915Ter
NM_000038.6:c.3593C>G MANE Select	NP_000029.2:p.Ser1198Ter
NM_001127510.3:c.3593C>G	NP_001120982.1:p.Ser1198Ter
NM_001127511.3:c.3539C>G	NP_001120983.2:p.Ser1180Ter
NM_001354895.2:c.3593C>G	NP_001341824.1:p.Ser1198Ter
NM_001354896.2:c.3647C>G	NP_001341825.1:p.Ser1216Ter
NM_001354897.2:c.3623C>G	NP_001341826.1:p.Ser1208Ter
NM_001354898.2:c.3518C>G	NP_001341827.1:p.Ser1173Ter
NM_001354899.2:c.3509C>G	NP_001341828.1:p.Ser1170Ter
NM_001354900.2:c.3470C>G	NP_001341829.1:p.Ser1157Ter
NM_001354901.2:c.3416C>G	NP_001341830.1:p.Ser1139Ter
NM_001354902.2:c.3320C>G	NP_001341831.1:p.Ser1107Ter
NM_001354903.2:c.3290C>G	NP_001341832.1:p.Ser1097Ter
NM_001354904.2:c.3215C>G	NP_001341833.1:p.Ser1072Ter
NM_001354905.2:c.3113C>G	NP_001341834.1:p.Ser1038Ter
NM_001354906.2:c.2744C>G	NP_001341835.1:p.Ser915Ter