Canonical Allele Identifier: CA446210989

Gene: APC

Linked Data

• ClinVar Variation Id: 2765667
• ClinVar RCV Id: RCV003538119
• MyVariant Identifiers: chr5:g.112179259T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112843562T>C , CM000667.2:g.112843562T>C	GRCh38
NC_000005.9:g.112179259T>C , CM000667.1:g.112179259T>C	GRCh37
NC_000005.8:g.112207158T>C	NCBI36
NG_008481.4:g.156042T>C , LRG_130:g.156042T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.8022T>C	ENSP00000473355.2:p.Asp2674=
ENST00000505350.2:c.*7974T>C	ENSP00000481752.1:n.*7974T>C
ENST00000507379.6:c.7914T>C	ENSP00000423224.2:p.Asp2638=
ENST00000509732.6:c.7968T>C	ENSP00000426541.2:p.Asp2656=
ENST00000512211.7:c.7968T>C	ENSP00000423828.3:p.Asp2656=
ENST00000257430.9:c.7968T>C MANE Select	ENSP00000257430.4:p.Asp2656=
ENST00000257430.8:c.7968T>C	ENSP00000257430.4:p.Asp2656=
ENST00000508376.6:c.7968T>C	ENSP00000427089.2:p.Asp2656=
ENST00000520401.1:c.231-13087T>C
NM_000038.5:c.7968T>C	NP_000029.2:p.Asp2656=
NM_001127510.2:c.7968T>C	NP_001120982.1:p.Asp2656=
NM_001127511.2:c.7914T>C	NP_001120983.2:p.Asp2638=
NM_001354895.1:c.7968T>C	NP_001341824.1:p.Asp2656=
NM_001354896.1:c.8022T>C	NP_001341825.1:p.Asp2674=
NM_001354897.1:c.7998T>C	NP_001341826.1:p.Asp2666=
NM_001354898.1:c.7893T>C	NP_001341827.1:p.Asp2631=
NM_001354899.1:c.7884T>C	NP_001341828.1:p.Asp2628=
NM_001354900.1:c.7845T>C	NP_001341829.1:p.Asp2615=
NM_001354901.1:c.7791T>C	NP_001341830.1:p.Asp2597=
NM_001354902.1:c.7695T>C	NP_001341831.1:p.Asp2565=
NM_001354903.1:c.7665T>C	NP_001341832.1:p.Asp2555=
NM_001354904.1:c.7590T>C	NP_001341833.1:p.Asp2530=
NM_001354905.1:c.7488T>C	NP_001341834.1:p.Asp2496=
NM_001354906.1:c.7119T>C	NP_001341835.1:p.Asp2373=
NM_000038.6:c.7968T>C MANE Select	NP_000029.2:p.Asp2656=
NM_001127510.3:c.7968T>C	NP_001120982.1:p.Asp2656=
NM_001127511.3:c.7914T>C	NP_001120983.2:p.Asp2638=
NM_001354895.2:c.7968T>C	NP_001341824.1:p.Asp2656=
NM_001354896.2:c.8022T>C	NP_001341825.1:p.Asp2674=
NM_001354897.2:c.7998T>C	NP_001341826.1:p.Asp2666=
NM_001354898.2:c.7893T>C	NP_001341827.1:p.Asp2631=
NM_001354899.2:c.7884T>C	NP_001341828.1:p.Asp2628=
NM_001354900.2:c.7845T>C	NP_001341829.1:p.Asp2615=
NM_001354901.2:c.7791T>C	NP_001341830.1:p.Asp2597=
NM_001354902.2:c.7695T>C	NP_001341831.1:p.Asp2565=
NM_001354903.2:c.7665T>C	NP_001341832.1:p.Asp2555=
NM_001354904.2:c.7590T>C	NP_001341833.1:p.Asp2530=
NM_001354905.2:c.7488T>C	NP_001341834.1:p.Asp2496=
NM_001354906.2:c.7119T>C	NP_001341835.1:p.Asp2373=