Canonical Allele Identifier: CA16028781

Gene: APC

Linked Data

• ClinVar Variation Id: 1719948
• ClinVar RCV Id: RCV002454628 ; RCV003743900
• dbSNP Id: rs1765414930
• MyVariant Identifiers: chr5:g.112174689A>T (hg19) ; chr5:g.112838992A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112838992A>T , CM000667.2:g.112838992A>T	GRCh38
NC_000005.9:g.112174689A>T , CM000667.1:g.112174689A>T	GRCh37
NC_000005.8:g.112202588A>T	NCBI36
NG_008481.4:g.151472A>T , LRG_130:g.151472A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502371.3:c.3063A>T	ENSP00000484935.2:n.3063A>T
ENST00000504915.3:c.3452A>T	ENSP00000473355.2:p.Asp1151Val
ENST00000505350.2:c.*3404A>T	ENSP00000481752.1:n.*3404A>T
ENST00000507379.6:c.3344A>T	ENSP00000423224.2:p.Asp1115Val
ENST00000509732.6:c.3398A>T	ENSP00000426541.2:p.Asp1133Val
ENST00000512211.7:c.3398A>T	ENSP00000423828.3:p.Asp1133Val
ENST00000257430.9:c.3398A>T MANE Select	ENSP00000257430.4:p.Asp1133Val
ENST00000257430.8:c.3398A>T	ENSP00000257430.4:p.Asp1133Val
ENST00000502371.2:c.1751A>T
ENST00000507379.5:c.3344A>T	ENSP00000423224.1:p.Asp1115Val
ENST00000508376.6:c.3398A>T	ENSP00000427089.2:p.Asp1133Val
ENST00000508624.5:c.*2720A>T	ENSP00000424265.1:n.*2720A>T
ENST00000512211.6:c.3398A>T	ENSP00000423828.2:p.Asp1133Val
ENST00000520401.1:c.230+10020A>T
NM_000038.5:c.3398A>T	NP_000029.2:p.Asp1133Val
NM_001127510.2:c.3398A>T	NP_001120982.1:p.Asp1133Val
NM_001127511.2:c.3344A>T	NP_001120983.2:p.Asp1115Val
NM_001354895.1:c.3398A>T	NP_001341824.1:p.Asp1133Val
NM_001354896.1:c.3452A>T	NP_001341825.1:p.Asp1151Val
NM_001354897.1:c.3428A>T	NP_001341826.1:p.Asp1143Val
NM_001354898.1:c.3323A>T	NP_001341827.1:p.Asp1108Val
NM_001354899.1:c.3314A>T	NP_001341828.1:p.Asp1105Val
NM_001354900.1:c.3275A>T	NP_001341829.1:p.Asp1092Val
NM_001354901.1:c.3221A>T	NP_001341830.1:p.Asp1074Val
NM_001354902.1:c.3125A>T	NP_001341831.1:p.Asp1042Val
NM_001354903.1:c.3095A>T	NP_001341832.1:p.Asp1032Val
NM_001354904.1:c.3020A>T	NP_001341833.1:p.Asp1007Val
NM_001354905.1:c.2918A>T	NP_001341834.1:p.Asp973Val
NM_001354906.1:c.2549A>T	NP_001341835.1:p.Asp850Val
NM_000038.6:c.3398A>T MANE Select	NP_000029.2:p.Asp1133Val
NM_001127510.3:c.3398A>T	NP_001120982.1:p.Asp1133Val
NM_001127511.3:c.3344A>T	NP_001120983.2:p.Asp1115Val
NM_001354895.2:c.3398A>T	NP_001341824.1:p.Asp1133Val
NM_001354896.2:c.3452A>T	NP_001341825.1:p.Asp1151Val
NM_001354897.2:c.3428A>T	NP_001341826.1:p.Asp1143Val
NM_001354898.2:c.3323A>T	NP_001341827.1:p.Asp1108Val
NM_001354899.2:c.3314A>T	NP_001341828.1:p.Asp1105Val
NM_001354900.2:c.3275A>T	NP_001341829.1:p.Asp1092Val
NM_001354901.2:c.3221A>T	NP_001341830.1:p.Asp1074Val
NM_001354902.2:c.3125A>T	NP_001341831.1:p.Asp1042Val
NM_001354903.2:c.3095A>T	NP_001341832.1:p.Asp1032Val
NM_001354904.2:c.3020A>T	NP_001341833.1:p.Asp1007Val
NM_001354905.2:c.2918A>T	NP_001341834.1:p.Asp973Val
NM_001354906.2:c.2549A>T	NP_001341835.1:p.Asp850Val