Canonical Allele Identifier: CA048409

Gene: APC

Linked Data

• ClinVar Variation Id: 927392
• ClinVar RCV Id: RCV001190627
• dbSNP Id: rs781226556
• ExAC: 5:112178844 A / G
• gnomAD v2: 5-112178844-A-G
• gnomAD v4: 5-112843147-A-G
• MyVariant Identifiers: chr5:g.112178844A>G (hg19) ; chr5:g.112843147A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112843147A>G , CM000667.2:g.112843147A>G	GRCh38
NC_000005.9:g.112178844A>G , CM000667.1:g.112178844A>G	GRCh37
NC_000005.8:g.112206743A>G	NCBI36
NG_008481.4:g.155627A>G , LRG_130:g.155627A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.7607A>G	ENSP00000473355.2:p.Asn2536Ser
ENST00000505350.2:c.*7559A>G	ENSP00000481752.1:n.*7559A>G
ENST00000507379.6:c.7499A>G	ENSP00000423224.2:p.Asn2500Ser
ENST00000509732.6:c.7553A>G	ENSP00000426541.2:p.Asn2518Ser
ENST00000512211.7:c.7553A>G	ENSP00000423828.3:p.Asn2518Ser
ENST00000257430.9:c.7553A>G MANE Select	ENSP00000257430.4:p.Asn2518Ser
ENST00000257430.8:c.7553A>G	ENSP00000257430.4:p.Asn2518Ser
ENST00000508376.6:c.7553A>G	ENSP00000427089.2:p.Asn2518Ser
ENST00000520401.1:c.231-13502A>G
NM_000038.5:c.7553A>G	NP_000029.2:p.Asn2518Ser
NM_001127510.2:c.7553A>G	NP_001120982.1:p.Asn2518Ser
NM_001127511.2:c.7499A>G	NP_001120983.2:p.Asn2500Ser
NM_001354895.1:c.7553A>G	NP_001341824.1:p.Asn2518Ser
NM_001354896.1:c.7607A>G	NP_001341825.1:p.Asn2536Ser
NM_001354897.1:c.7583A>G	NP_001341826.1:p.Asn2528Ser
NM_001354898.1:c.7478A>G	NP_001341827.1:p.Asn2493Ser
NM_001354899.1:c.7469A>G	NP_001341828.1:p.Asn2490Ser
NM_001354900.1:c.7430A>G	NP_001341829.1:p.Asn2477Ser
NM_001354901.1:c.7376A>G	NP_001341830.1:p.Asn2459Ser
NM_001354902.1:c.7280A>G	NP_001341831.1:p.Asn2427Ser
NM_001354903.1:c.7250A>G	NP_001341832.1:p.Asn2417Ser
NM_001354904.1:c.7175A>G	NP_001341833.1:p.Asn2392Ser
NM_001354905.1:c.7073A>G	NP_001341834.1:p.Asn2358Ser
NM_001354906.1:c.6704A>G	NP_001341835.1:p.Asn2235Ser
NM_000038.6:c.7553A>G MANE Select	NP_000029.2:p.Asn2518Ser
NM_001127510.3:c.7553A>G	NP_001120982.1:p.Asn2518Ser
NM_001127511.3:c.7499A>G	NP_001120983.2:p.Asn2500Ser
NM_001354895.2:c.7553A>G	NP_001341824.1:p.Asn2518Ser
NM_001354896.2:c.7607A>G	NP_001341825.1:p.Asn2536Ser
NM_001354897.2:c.7583A>G	NP_001341826.1:p.Asn2528Ser
NM_001354898.2:c.7478A>G	NP_001341827.1:p.Asn2493Ser
NM_001354899.2:c.7469A>G	NP_001341828.1:p.Asn2490Ser
NM_001354900.2:c.7430A>G	NP_001341829.1:p.Asn2477Ser
NM_001354901.2:c.7376A>G	NP_001341830.1:p.Asn2459Ser
NM_001354902.2:c.7280A>G	NP_001341831.1:p.Asn2427Ser
NM_001354903.2:c.7250A>G	NP_001341832.1:p.Asn2417Ser
NM_001354904.2:c.7175A>G	NP_001341833.1:p.Asn2392Ser
NM_001354905.2:c.7073A>G	NP_001341834.1:p.Asn2358Ser
NM_001354906.2:c.6704A>G	NP_001341835.1:p.Asn2235Ser