Canonical Allele Identifier: CA16028031

Gene: APC

Linked Data

• ClinVar Variation Id: 822747
• ClinVar RCV Id: RCV001018357
• dbSNP Id: rs1580630407
• COSMIC: COSM19133
• MyVariant Identifiers: chr5:g.112174349G>T (hg19) ; chr5:g.112838652G>T (hg38)
• PubMed: PMID:10094547

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112838652G>T , CM000667.2:g.112838652G>T	GRCh38
NC_000005.9:g.112174349G>T , CM000667.1:g.112174349G>T	GRCh37
NC_000005.8:g.112202248G>T	NCBI36
NG_008481.4:g.151132G>T , LRG_130:g.151132G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502371.3:c.2723G>T	ENSP00000484935.2:n.2723G>T
ENST00000504915.3:c.3112G>T	ENSP00000473355.2:p.Glu1038Ter
ENST00000505350.2:c.*3064G>T	ENSP00000481752.1:n.*3064G>T
ENST00000507379.6:c.3004G>T	ENSP00000423224.2:p.Glu1002Ter
ENST00000509732.6:c.3058G>T	ENSP00000426541.2:p.Glu1020Ter
ENST00000512211.7:c.3058G>T	ENSP00000423828.3:p.Glu1020Ter
ENST00000257430.9:c.3058G>T MANE Select	ENSP00000257430.4:p.Glu1020Ter
ENST00000257430.8:c.3058G>T	ENSP00000257430.4:p.Glu1020Ter
ENST00000502371.2:c.1411G>T
ENST00000507379.5:c.3004G>T	ENSP00000423224.1:p.Glu1002Ter
ENST00000508376.6:c.3058G>T	ENSP00000427089.2:p.Glu1020Ter
ENST00000508624.5:c.*2380G>T	ENSP00000424265.1:n.*2380G>T
ENST00000512211.6:c.3058G>T	ENSP00000423828.2:p.Glu1020Ter
ENST00000520401.1:c.230+9680G>T
NM_000038.5:c.3058G>T	NP_000029.2:p.Glu1020Ter
NM_001127510.2:c.3058G>T	NP_001120982.1:p.Glu1020Ter
NM_001127511.2:c.3004G>T	NP_001120983.2:p.Glu1002Ter
NM_001354895.1:c.3058G>T	NP_001341824.1:p.Glu1020Ter
NM_001354896.1:c.3112G>T	NP_001341825.1:p.Glu1038Ter
NM_001354897.1:c.3088G>T	NP_001341826.1:p.Glu1030Ter
NM_001354898.1:c.2983G>T	NP_001341827.1:p.Glu995Ter
NM_001354899.1:c.2974G>T	NP_001341828.1:p.Glu992Ter
NM_001354900.1:c.2935G>T	NP_001341829.1:p.Glu979Ter
NM_001354901.1:c.2881G>T	NP_001341830.1:p.Glu961Ter
NM_001354902.1:c.2785G>T	NP_001341831.1:p.Glu929Ter
NM_001354903.1:c.2755G>T	NP_001341832.1:p.Glu919Ter
NM_001354904.1:c.2680G>T	NP_001341833.1:p.Glu894Ter
NM_001354905.1:c.2578G>T	NP_001341834.1:p.Glu860Ter
NM_001354906.1:c.2209G>T	NP_001341835.1:p.Glu737Ter
NM_000038.6:c.3058G>T MANE Select	NP_000029.2:p.Glu1020Ter
NM_001127510.3:c.3058G>T	NP_001120982.1:p.Glu1020Ter
NM_001127511.3:c.3004G>T	NP_001120983.2:p.Glu1002Ter
NM_001354895.2:c.3058G>T	NP_001341824.1:p.Glu1020Ter
NM_001354896.2:c.3112G>T	NP_001341825.1:p.Glu1038Ter
NM_001354897.2:c.3088G>T	NP_001341826.1:p.Glu1030Ter
NM_001354898.2:c.2983G>T	NP_001341827.1:p.Glu995Ter
NM_001354899.2:c.2974G>T	NP_001341828.1:p.Glu992Ter
NM_001354900.2:c.2935G>T	NP_001341829.1:p.Glu979Ter
NM_001354901.2:c.2881G>T	NP_001341830.1:p.Glu961Ter
NM_001354902.2:c.2785G>T	NP_001341831.1:p.Glu929Ter
NM_001354903.2:c.2755G>T	NP_001341832.1:p.Glu919Ter
NM_001354904.2:c.2680G>T	NP_001341833.1:p.Glu894Ter
NM_001354905.2:c.2578G>T	NP_001341834.1:p.Glu860Ter
NM_001354906.2:c.2209G>T	NP_001341835.1:p.Glu737Ter