Canonical Allele Identifier: CA16038145

Gene: APC

Linked Data

• ClinVar Variation Id: 1051127
• ClinVar RCV Id: RCV002242516 ; RCV002404844
• dbSNP Id: rs1203301360
• gnomAD v4: 5-112843336-G-T
• MyVariant Identifiers: chr5:g.112179033G>T (hg19) ; chr5:g.112843336G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112843336G>T , CM000667.2:g.112843336G>T	GRCh38
NC_000005.9:g.112179033G>T , CM000667.1:g.112179033G>T	GRCh37
NC_000005.8:g.112206932G>T	NCBI36
NG_008481.4:g.155816G>T , LRG_130:g.155816G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.7796G>T	ENSP00000473355.2:p.Ser2599Ile
ENST00000505350.2:c.*7748G>T	ENSP00000481752.1:n.*7748G>T
ENST00000507379.6:c.7688G>T	ENSP00000423224.2:p.Ser2563Ile
ENST00000509732.6:c.7742G>T	ENSP00000426541.2:p.Ser2581Ile
ENST00000512211.7:c.7742G>T	ENSP00000423828.3:p.Ser2581Ile
ENST00000257430.9:c.7742G>T MANE Select	ENSP00000257430.4:p.Ser2581Ile
ENST00000257430.8:c.7742G>T	ENSP00000257430.4:p.Ser2581Ile
ENST00000508376.6:c.7742G>T	ENSP00000427089.2:p.Ser2581Ile
ENST00000520401.1:c.231-13313G>T
NM_000038.5:c.7742G>T	NP_000029.2:p.Ser2581Ile
NM_001127510.2:c.7742G>T	NP_001120982.1:p.Ser2581Ile
NM_001127511.2:c.7688G>T	NP_001120983.2:p.Ser2563Ile
NM_001354895.1:c.7742G>T	NP_001341824.1:p.Ser2581Ile
NM_001354896.1:c.7796G>T	NP_001341825.1:p.Ser2599Ile
NM_001354897.1:c.7772G>T	NP_001341826.1:p.Ser2591Ile
NM_001354898.1:c.7667G>T	NP_001341827.1:p.Ser2556Ile
NM_001354899.1:c.7658G>T	NP_001341828.1:p.Ser2553Ile
NM_001354900.1:c.7619G>T	NP_001341829.1:p.Ser2540Ile
NM_001354901.1:c.7565G>T	NP_001341830.1:p.Ser2522Ile
NM_001354902.1:c.7469G>T	NP_001341831.1:p.Ser2490Ile
NM_001354903.1:c.7439G>T	NP_001341832.1:p.Ser2480Ile
NM_001354904.1:c.7364G>T	NP_001341833.1:p.Ser2455Ile
NM_001354905.1:c.7262G>T	NP_001341834.1:p.Ser2421Ile
NM_001354906.1:c.6893G>T	NP_001341835.1:p.Ser2298Ile
NM_000038.6:c.7742G>T MANE Select	NP_000029.2:p.Ser2581Ile
NM_001127510.3:c.7742G>T	NP_001120982.1:p.Ser2581Ile
NM_001127511.3:c.7688G>T	NP_001120983.2:p.Ser2563Ile
NM_001354895.2:c.7742G>T	NP_001341824.1:p.Ser2581Ile
NM_001354896.2:c.7796G>T	NP_001341825.1:p.Ser2599Ile
NM_001354897.2:c.7772G>T	NP_001341826.1:p.Ser2591Ile
NM_001354898.2:c.7667G>T	NP_001341827.1:p.Ser2556Ile
NM_001354899.2:c.7658G>T	NP_001341828.1:p.Ser2553Ile
NM_001354900.2:c.7619G>T	NP_001341829.1:p.Ser2540Ile
NM_001354901.2:c.7565G>T	NP_001341830.1:p.Ser2522Ile
NM_001354902.2:c.7469G>T	NP_001341831.1:p.Ser2490Ile
NM_001354903.2:c.7439G>T	NP_001341832.1:p.Ser2480Ile
NM_001354904.2:c.7364G>T	NP_001341833.1:p.Ser2455Ile
NM_001354905.2:c.7262G>T	NP_001341834.1:p.Ser2421Ile
NM_001354906.2:c.6893G>T	NP_001341835.1:p.Ser2298Ile