Canonical Allele Identifier: CA014137

Gene: APC

Linked Data

• ClinVar Variation Id: 181827
• ClinVar RCV Id: RCV000159579 ; RCV000583290 ; RCV003534416 ; RCV003230419 ; RCV002515105
• dbSNP Id: rs730881268
• ExAC: 5:112179168 C / T
• gnomAD v2: 5-112179168-C-T
• gnomAD v3: 5-112843471-C-T
• gnomAD v4: 5-112843471-C-T
• MyVariant Identifiers: chr5:g.112179168C>T (hg19) ; chr5:g.112843471C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112843471C>T , CM000667.2:g.112843471C>T	GRCh38
NC_000005.9:g.112179168C>T , CM000667.1:g.112179168C>T	GRCh37
NC_000005.8:g.112207067C>T	NCBI36
NG_008481.4:g.155951C>T , LRG_130:g.155951C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.7931C>T	ENSP00000473355.2:p.Thr2644Ile
ENST00000505350.2:c.*7883C>T	ENSP00000481752.1:n.*7883C>T
ENST00000507379.6:c.7823C>T	ENSP00000423224.2:p.Thr2608Ile
ENST00000509732.6:c.7877C>T	ENSP00000426541.2:p.Thr2626Ile
ENST00000512211.7:c.7877C>T	ENSP00000423828.3:p.Thr2626Ile
ENST00000257430.9:c.7877C>T MANE Select	ENSP00000257430.4:p.Thr2626Ile
ENST00000257430.8:c.7877C>T	ENSP00000257430.4:p.Thr2626Ile
ENST00000508376.6:c.7877C>T	ENSP00000427089.2:p.Thr2626Ile
ENST00000520401.1:c.231-13178C>T
NM_000038.5:c.7877C>T	NP_000029.2:p.Thr2626Ile
NM_001127510.2:c.7877C>T	NP_001120982.1:p.Thr2626Ile
NM_001127511.2:c.7823C>T	NP_001120983.2:p.Thr2608Ile
NM_001354895.1:c.7877C>T	NP_001341824.1:p.Thr2626Ile
NM_001354896.1:c.7931C>T	NP_001341825.1:p.Thr2644Ile
NM_001354897.1:c.7907C>T	NP_001341826.1:p.Thr2636Ile
NM_001354898.1:c.7802C>T	NP_001341827.1:p.Thr2601Ile
NM_001354899.1:c.7793C>T	NP_001341828.1:p.Thr2598Ile
NM_001354900.1:c.7754C>T	NP_001341829.1:p.Thr2585Ile
NM_001354901.1:c.7700C>T	NP_001341830.1:p.Thr2567Ile
NM_001354902.1:c.7604C>T	NP_001341831.1:p.Thr2535Ile
NM_001354903.1:c.7574C>T	NP_001341832.1:p.Thr2525Ile
NM_001354904.1:c.7499C>T	NP_001341833.1:p.Thr2500Ile
NM_001354905.1:c.7397C>T	NP_001341834.1:p.Thr2466Ile
NM_001354906.1:c.7028C>T	NP_001341835.1:p.Thr2343Ile
NM_000038.6:c.7877C>T MANE Select	NP_000029.2:p.Thr2626Ile
NM_001127510.3:c.7877C>T	NP_001120982.1:p.Thr2626Ile
NM_001127511.3:c.7823C>T	NP_001120983.2:p.Thr2608Ile
NM_001354895.2:c.7877C>T	NP_001341824.1:p.Thr2626Ile
NM_001354896.2:c.7931C>T	NP_001341825.1:p.Thr2644Ile
NM_001354897.2:c.7907C>T	NP_001341826.1:p.Thr2636Ile
NM_001354898.2:c.7802C>T	NP_001341827.1:p.Thr2601Ile
NM_001354899.2:c.7793C>T	NP_001341828.1:p.Thr2598Ile
NM_001354900.2:c.7754C>T	NP_001341829.1:p.Thr2585Ile
NM_001354901.2:c.7700C>T	NP_001341830.1:p.Thr2567Ile
NM_001354902.2:c.7604C>T	NP_001341831.1:p.Thr2535Ile
NM_001354903.2:c.7574C>T	NP_001341832.1:p.Thr2525Ile
NM_001354904.2:c.7499C>T	NP_001341833.1:p.Thr2500Ile
NM_001354905.2:c.7397C>T	NP_001341834.1:p.Thr2466Ile
NM_001354906.2:c.7028C>T	NP_001341835.1:p.Thr2343Ile