Canonical Allele Identifier: CA16037824

Gene: APC

Linked Data

• ClinVar Variation Id: 411449
• ClinVar RCV Id: RCV000567469 ; RCV003766578
• dbSNP Id: rs1060503311
• gnomAD v4: 5-112843185-T-G
• MyVariant Identifiers: chr5:g.112178882T>G (hg19) ; chr5:g.112843185T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112843185T>G , CM000667.2:g.112843185T>G	GRCh38
NC_000005.9:g.112178882T>G , CM000667.1:g.112178882T>G	GRCh37
NC_000005.8:g.112206781T>G	NCBI36
NG_008481.4:g.155665T>G , LRG_130:g.155665T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.7645T>G	ENSP00000473355.2:p.Ser2549Ala
ENST00000505350.2:c.*7597T>G	ENSP00000481752.1:n.*7597T>G
ENST00000507379.6:c.7537T>G	ENSP00000423224.2:p.Ser2513Ala
ENST00000509732.6:c.7591T>G	ENSP00000426541.2:p.Ser2531Ala
ENST00000512211.7:c.7591T>G	ENSP00000423828.3:p.Ser2531Ala
ENST00000257430.9:c.7591T>G MANE Select	ENSP00000257430.4:p.Ser2531Ala
ENST00000257430.8:c.7591T>G	ENSP00000257430.4:p.Ser2531Ala
ENST00000508376.6:c.7591T>G	ENSP00000427089.2:p.Ser2531Ala
ENST00000520401.1:c.231-13464T>G
NM_000038.5:c.7591T>G	NP_000029.2:p.Ser2531Ala
NM_001127510.2:c.7591T>G	NP_001120982.1:p.Ser2531Ala
NM_001127511.2:c.7537T>G	NP_001120983.2:p.Ser2513Ala
NM_001354895.1:c.7591T>G	NP_001341824.1:p.Ser2531Ala
NM_001354896.1:c.7645T>G	NP_001341825.1:p.Ser2549Ala
NM_001354897.1:c.7621T>G	NP_001341826.1:p.Ser2541Ala
NM_001354898.1:c.7516T>G	NP_001341827.1:p.Ser2506Ala
NM_001354899.1:c.7507T>G	NP_001341828.1:p.Ser2503Ala
NM_001354900.1:c.7468T>G	NP_001341829.1:p.Ser2490Ala
NM_001354901.1:c.7414T>G	NP_001341830.1:p.Ser2472Ala
NM_001354902.1:c.7318T>G	NP_001341831.1:p.Ser2440Ala
NM_001354903.1:c.7288T>G	NP_001341832.1:p.Ser2430Ala
NM_001354904.1:c.7213T>G	NP_001341833.1:p.Ser2405Ala
NM_001354905.1:c.7111T>G	NP_001341834.1:p.Ser2371Ala
NM_001354906.1:c.6742T>G	NP_001341835.1:p.Ser2248Ala
NM_000038.6:c.7591T>G MANE Select	NP_000029.2:p.Ser2531Ala
NM_001127510.3:c.7591T>G	NP_001120982.1:p.Ser2531Ala
NM_001127511.3:c.7537T>G	NP_001120983.2:p.Ser2513Ala
NM_001354895.2:c.7591T>G	NP_001341824.1:p.Ser2531Ala
NM_001354896.2:c.7645T>G	NP_001341825.1:p.Ser2549Ala
NM_001354897.2:c.7621T>G	NP_001341826.1:p.Ser2541Ala
NM_001354898.2:c.7516T>G	NP_001341827.1:p.Ser2506Ala
NM_001354899.2:c.7507T>G	NP_001341828.1:p.Ser2503Ala
NM_001354900.2:c.7468T>G	NP_001341829.1:p.Ser2490Ala
NM_001354901.2:c.7414T>G	NP_001341830.1:p.Ser2472Ala
NM_001354902.2:c.7318T>G	NP_001341831.1:p.Ser2440Ala
NM_001354903.2:c.7288T>G	NP_001341832.1:p.Ser2430Ala
NM_001354904.2:c.7213T>G	NP_001341833.1:p.Ser2405Ala
NM_001354905.2:c.7111T>G	NP_001341834.1:p.Ser2371Ala
NM_001354906.2:c.6742T>G	NP_001341835.1:p.Ser2248Ala