Canonical Allele Identifier: CA16027956

Gene: APC

Linked Data

• ClinVar Variation Id: 2734199
• ClinVar RCV Id: RCV003535146
• dbSNP Id: rs1253051713
• MyVariant Identifiers: chr5:g.112174319A>T (hg19) ; chr5:g.112838622A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112838622A>T , CM000667.2:g.112838622A>T	GRCh38
NC_000005.9:g.112174319A>T , CM000667.1:g.112174319A>T	GRCh37
NC_000005.8:g.112202218A>T	NCBI36
NG_008481.4:g.151102A>T , LRG_130:g.151102A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502371.3:c.2693A>T	ENSP00000484935.2:n.2693A>T
ENST00000504915.3:c.3082A>T	ENSP00000473355.2:p.Ser1028Cys
ENST00000505350.2:c.*3034A>T	ENSP00000481752.1:n.*3034A>T
ENST00000507379.6:c.2974A>T	ENSP00000423224.2:p.Ser992Cys
ENST00000509732.6:c.3028A>T	ENSP00000426541.2:p.Ser1010Cys
ENST00000512211.7:c.3028A>T	ENSP00000423828.3:p.Ser1010Cys
ENST00000257430.9:c.3028A>T MANE Select	ENSP00000257430.4:p.Ser1010Cys
ENST00000257430.8:c.3028A>T	ENSP00000257430.4:p.Ser1010Cys
ENST00000502371.2:c.1381A>T
ENST00000507379.5:c.2974A>T	ENSP00000423224.1:p.Ser992Cys
ENST00000508376.6:c.3028A>T	ENSP00000427089.2:p.Ser1010Cys
ENST00000508624.5:c.*2350A>T	ENSP00000424265.1:n.*2350A>T
ENST00000512211.6:c.3028A>T	ENSP00000423828.2:p.Ser1010Cys
ENST00000520401.1:c.230+9650A>T
NM_000038.5:c.3028A>T	NP_000029.2:p.Ser1010Cys
NM_001127510.2:c.3028A>T	NP_001120982.1:p.Ser1010Cys
NM_001127511.2:c.2974A>T	NP_001120983.2:p.Ser992Cys
NM_001354895.1:c.3028A>T	NP_001341824.1:p.Ser1010Cys
NM_001354896.1:c.3082A>T	NP_001341825.1:p.Ser1028Cys
NM_001354897.1:c.3058A>T	NP_001341826.1:p.Ser1020Cys
NM_001354898.1:c.2953A>T	NP_001341827.1:p.Ser985Cys
NM_001354899.1:c.2944A>T	NP_001341828.1:p.Ser982Cys
NM_001354900.1:c.2905A>T	NP_001341829.1:p.Ser969Cys
NM_001354901.1:c.2851A>T	NP_001341830.1:p.Ser951Cys
NM_001354902.1:c.2755A>T	NP_001341831.1:p.Ser919Cys
NM_001354903.1:c.2725A>T	NP_001341832.1:p.Ser909Cys
NM_001354904.1:c.2650A>T	NP_001341833.1:p.Ser884Cys
NM_001354905.1:c.2548A>T	NP_001341834.1:p.Ser850Cys
NM_001354906.1:c.2179A>T	NP_001341835.1:p.Ser727Cys
NM_000038.6:c.3028A>T MANE Select	NP_000029.2:p.Ser1010Cys
NM_001127510.3:c.3028A>T	NP_001120982.1:p.Ser1010Cys
NM_001127511.3:c.2974A>T	NP_001120983.2:p.Ser992Cys
NM_001354895.2:c.3028A>T	NP_001341824.1:p.Ser1010Cys
NM_001354896.2:c.3082A>T	NP_001341825.1:p.Ser1028Cys
NM_001354897.2:c.3058A>T	NP_001341826.1:p.Ser1020Cys
NM_001354898.2:c.2953A>T	NP_001341827.1:p.Ser985Cys
NM_001354899.2:c.2944A>T	NP_001341828.1:p.Ser982Cys
NM_001354900.2:c.2905A>T	NP_001341829.1:p.Ser969Cys
NM_001354901.2:c.2851A>T	NP_001341830.1:p.Ser951Cys
NM_001354902.2:c.2755A>T	NP_001341831.1:p.Ser919Cys
NM_001354903.2:c.2725A>T	NP_001341832.1:p.Ser909Cys
NM_001354904.2:c.2650A>T	NP_001341833.1:p.Ser884Cys
NM_001354905.2:c.2548A>T	NP_001341834.1:p.Ser850Cys
NM_001354906.2:c.2179A>T	NP_001341835.1:p.Ser727Cys