Canonical Allele Identifier: CA446211000

Gene: APC

Linked Data

• ClinVar Variation Id: 701203
• ClinVar RCV Id: RCV002235596
• dbSNP Id: rs1580688943
• MyVariant Identifiers: chr5:g.112179280C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112843583C>T , CM000667.2:g.112843583C>T	GRCh38
NC_000005.9:g.112179280C>T , CM000667.1:g.112179280C>T	GRCh37
NC_000005.8:g.112207179C>T	NCBI36
NG_008481.4:g.156063C>T , LRG_130:g.156063C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.8043C>T	ENSP00000473355.2:p.Asp2681=
ENST00000505350.2:c.*7995C>T	ENSP00000481752.1:n.*7995C>T
ENST00000507379.6:c.7935C>T	ENSP00000423224.2:p.Asp2645=
ENST00000509732.6:c.7989C>T	ENSP00000426541.2:p.Asp2663=
ENST00000512211.7:c.7989C>T	ENSP00000423828.3:p.Asp2663=
ENST00000257430.9:c.7989C>T MANE Select	ENSP00000257430.4:p.Asp2663=
ENST00000257430.8:c.7989C>T	ENSP00000257430.4:p.Asp2663=
ENST00000508376.6:c.7989C>T	ENSP00000427089.2:p.Asp2663=
ENST00000520401.1:c.231-13066C>T
NM_000038.5:c.7989C>T	NP_000029.2:p.Asp2663=
NM_001127510.2:c.7989C>T	NP_001120982.1:p.Asp2663=
NM_001127511.2:c.7935C>T	NP_001120983.2:p.Asp2645=
NM_001354895.1:c.7989C>T	NP_001341824.1:p.Asp2663=
NM_001354896.1:c.8043C>T	NP_001341825.1:p.Asp2681=
NM_001354897.1:c.8019C>T	NP_001341826.1:p.Asp2673=
NM_001354898.1:c.7914C>T	NP_001341827.1:p.Asp2638=
NM_001354899.1:c.7905C>T	NP_001341828.1:p.Asp2635=
NM_001354900.1:c.7866C>T	NP_001341829.1:p.Asp2622=
NM_001354901.1:c.7812C>T	NP_001341830.1:p.Asp2604=
NM_001354902.1:c.7716C>T	NP_001341831.1:p.Asp2572=
NM_001354903.1:c.7686C>T	NP_001341832.1:p.Asp2562=
NM_001354904.1:c.7611C>T	NP_001341833.1:p.Asp2537=
NM_001354905.1:c.7509C>T	NP_001341834.1:p.Asp2503=
NM_001354906.1:c.7140C>T	NP_001341835.1:p.Asp2380=
NM_000038.6:c.7989C>T MANE Select	NP_000029.2:p.Asp2663=
NM_001127510.3:c.7989C>T	NP_001120982.1:p.Asp2663=
NM_001127511.3:c.7935C>T	NP_001120983.2:p.Asp2645=
NM_001354895.2:c.7989C>T	NP_001341824.1:p.Asp2663=
NM_001354896.2:c.8043C>T	NP_001341825.1:p.Asp2681=
NM_001354897.2:c.8019C>T	NP_001341826.1:p.Asp2673=
NM_001354898.2:c.7914C>T	NP_001341827.1:p.Asp2638=
NM_001354899.2:c.7905C>T	NP_001341828.1:p.Asp2635=
NM_001354900.2:c.7866C>T	NP_001341829.1:p.Asp2622=
NM_001354901.2:c.7812C>T	NP_001341830.1:p.Asp2604=
NM_001354902.2:c.7716C>T	NP_001341831.1:p.Asp2572=
NM_001354903.2:c.7686C>T	NP_001341832.1:p.Asp2562=
NM_001354904.2:c.7611C>T	NP_001341833.1:p.Asp2537=
NM_001354905.2:c.7509C>T	NP_001341834.1:p.Asp2503=
NM_001354906.2:c.7140C>T	NP_001341835.1:p.Asp2380=