Canonical Allele Identifier: CA046787

Gene: APC

Linked Data

• ClinVar Variation Id: 958591
• ClinVar RCV Id: RCV001524709 ; RCV003650810
• dbSNP Id: rs532244792
• ExAC: 5:112178366 T / G
• gnomAD v2: 5-112178366-T-G
• gnomAD v3: 5-112842669-T-G
• gnomAD v4: 5-112842669-T-G
• MyVariant Identifiers: chr5:g.112178366T>G (hg19) ; chr5:g.112842669T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112842669T>G , CM000667.2:g.112842669T>G	GRCh38
NC_000005.9:g.112178366T>G , CM000667.1:g.112178366T>G	GRCh37
NC_000005.8:g.112206265T>G	NCBI36
NG_008481.4:g.155149T>G , LRG_130:g.155149T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.7129T>G	ENSP00000473355.2:p.Ser2377Ala
ENST00000505350.2:c.*7081T>G	ENSP00000481752.1:n.*7081T>G
ENST00000507379.6:c.7021T>G	ENSP00000423224.2:p.Ser2341Ala
ENST00000509732.6:c.7075T>G	ENSP00000426541.2:p.Ser2359Ala
ENST00000512211.7:c.7075T>G	ENSP00000423828.3:p.Ser2359Ala
ENST00000257430.9:c.7075T>G MANE Select	ENSP00000257430.4:p.Ser2359Ala
ENST00000257430.8:c.7075T>G	ENSP00000257430.4:p.Ser2359Ala
ENST00000508376.6:c.7075T>G	ENSP00000427089.2:p.Ser2359Ala
ENST00000508624.5:c.*6397T>G	ENSP00000424265.1:n.*6397T>G
ENST00000520401.1:c.230+13697T>G
NM_000038.5:c.7075T>G	NP_000029.2:p.Ser2359Ala
NM_001127510.2:c.7075T>G	NP_001120982.1:p.Ser2359Ala
NM_001127511.2:c.7021T>G	NP_001120983.2:p.Ser2341Ala
NM_001354895.1:c.7075T>G	NP_001341824.1:p.Ser2359Ala
NM_001354896.1:c.7129T>G	NP_001341825.1:p.Ser2377Ala
NM_001354897.1:c.7105T>G	NP_001341826.1:p.Ser2369Ala
NM_001354898.1:c.7000T>G	NP_001341827.1:p.Ser2334Ala
NM_001354899.1:c.6991T>G	NP_001341828.1:p.Ser2331Ala
NM_001354900.1:c.6952T>G	NP_001341829.1:p.Ser2318Ala
NM_001354901.1:c.6898T>G	NP_001341830.1:p.Ser2300Ala
NM_001354902.1:c.6802T>G	NP_001341831.1:p.Ser2268Ala
NM_001354903.1:c.6772T>G	NP_001341832.1:p.Ser2258Ala
NM_001354904.1:c.6697T>G	NP_001341833.1:p.Ser2233Ala
NM_001354905.1:c.6595T>G	NP_001341834.1:p.Ser2199Ala
NM_001354906.1:c.6226T>G	NP_001341835.1:p.Ser2076Ala
NM_000038.6:c.7075T>G MANE Select	NP_000029.2:p.Ser2359Ala
NM_001127510.3:c.7075T>G	NP_001120982.1:p.Ser2359Ala
NM_001127511.3:c.7021T>G	NP_001120983.2:p.Ser2341Ala
NM_001354895.2:c.7075T>G	NP_001341824.1:p.Ser2359Ala
NM_001354896.2:c.7129T>G	NP_001341825.1:p.Ser2377Ala
NM_001354897.2:c.7105T>G	NP_001341826.1:p.Ser2369Ala
NM_001354898.2:c.7000T>G	NP_001341827.1:p.Ser2334Ala
NM_001354899.2:c.6991T>G	NP_001341828.1:p.Ser2331Ala
NM_001354900.2:c.6952T>G	NP_001341829.1:p.Ser2318Ala
NM_001354901.2:c.6898T>G	NP_001341830.1:p.Ser2300Ala
NM_001354902.2:c.6802T>G	NP_001341831.1:p.Ser2268Ala
NM_001354903.2:c.6772T>G	NP_001341832.1:p.Ser2258Ala
NM_001354904.2:c.6697T>G	NP_001341833.1:p.Ser2233Ala
NM_001354905.2:c.6595T>G	NP_001341834.1:p.Ser2199Ala
NM_001354906.2:c.6226T>G	NP_001341835.1:p.Ser2076Ala