Canonical Allele Identifier: CA16038783

Gene: APC

Linked Data

• ClinVar Variation Id: 489502
• ClinVar RCV Id: RCV000579772 ; RCV003537238
• dbSNP Id: rs752887834
• gnomAD v2: 5-112179327-C-T
• gnomAD v4: 5-112843630-C-T
• MyVariant Identifiers: chr5:g.112179327C>T (hg19) ; chr5:g.112843630C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112843630C>T , CM000667.2:g.112843630C>T	GRCh38
NC_000005.9:g.112179327C>T , CM000667.1:g.112179327C>T	GRCh37
NC_000005.8:g.112207226C>T	NCBI36
NG_008481.4:g.156110C>T , LRG_130:g.156110C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.8090C>T	ENSP00000473355.2:p.Thr2697Ile
ENST00000505350.2:c.*8042C>T	ENSP00000481752.1:n.*8042C>T
ENST00000507379.6:c.7982C>T	ENSP00000423224.2:p.Thr2661Ile
ENST00000509732.6:c.8036C>T	ENSP00000426541.2:p.Thr2679Ile
ENST00000512211.7:c.8036C>T	ENSP00000423828.3:p.Thr2679Ile
ENST00000257430.9:c.8036C>T MANE Select	ENSP00000257430.4:p.Thr2679Ile
ENST00000257430.8:c.8036C>T	ENSP00000257430.4:p.Thr2679Ile
ENST00000508376.6:c.8036C>T	ENSP00000427089.2:p.Thr2679Ile
ENST00000520401.1:c.231-13019C>T
NM_000038.5:c.8036C>T	NP_000029.2:p.Thr2679Ile
NM_001127510.2:c.8036C>T	NP_001120982.1:p.Thr2679Ile
NM_001127511.2:c.7982C>T	NP_001120983.2:p.Thr2661Ile
NM_001354895.1:c.8036C>T	NP_001341824.1:p.Thr2679Ile
NM_001354896.1:c.8090C>T	NP_001341825.1:p.Thr2697Ile
NM_001354897.1:c.8066C>T	NP_001341826.1:p.Thr2689Ile
NM_001354898.1:c.7961C>T	NP_001341827.1:p.Thr2654Ile
NM_001354899.1:c.7952C>T	NP_001341828.1:p.Thr2651Ile
NM_001354900.1:c.7913C>T	NP_001341829.1:p.Thr2638Ile
NM_001354901.1:c.7859C>T	NP_001341830.1:p.Thr2620Ile
NM_001354902.1:c.7763C>T	NP_001341831.1:p.Thr2588Ile
NM_001354903.1:c.7733C>T	NP_001341832.1:p.Thr2578Ile
NM_001354904.1:c.7658C>T	NP_001341833.1:p.Thr2553Ile
NM_001354905.1:c.7556C>T	NP_001341834.1:p.Thr2519Ile
NM_001354906.1:c.7187C>T	NP_001341835.1:p.Thr2396Ile
NM_000038.6:c.8036C>T MANE Select	NP_000029.2:p.Thr2679Ile
NM_001127510.3:c.8036C>T	NP_001120982.1:p.Thr2679Ile
NM_001127511.3:c.7982C>T	NP_001120983.2:p.Thr2661Ile
NM_001354895.2:c.8036C>T	NP_001341824.1:p.Thr2679Ile
NM_001354896.2:c.8090C>T	NP_001341825.1:p.Thr2697Ile
NM_001354897.2:c.8066C>T	NP_001341826.1:p.Thr2689Ile
NM_001354898.2:c.7961C>T	NP_001341827.1:p.Thr2654Ile
NM_001354899.2:c.7952C>T	NP_001341828.1:p.Thr2651Ile
NM_001354900.2:c.7913C>T	NP_001341829.1:p.Thr2638Ile
NM_001354901.2:c.7859C>T	NP_001341830.1:p.Thr2620Ile
NM_001354902.2:c.7763C>T	NP_001341831.1:p.Thr2588Ile
NM_001354903.2:c.7733C>T	NP_001341832.1:p.Thr2578Ile
NM_001354904.2:c.7658C>T	NP_001341833.1:p.Thr2553Ile
NM_001354905.2:c.7556C>T	NP_001341834.1:p.Thr2519Ile
NM_001354906.2:c.7187C>T	NP_001341835.1:p.Thr2396Ile