Canonical Allele Identifier: CA16031754

Gene: APC

Linked Data

• ClinVar Variation Id: 1369536
• ClinVar RCV Id: RCV001870683
• dbSNP Id: rs2149922916
• gnomAD v4: 5-112840347-A-G
• MyVariant Identifiers: chr5:g.112176044A>G (hg19) ; chr5:g.112840347A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112840347A>G , CM000667.2:g.112840347A>G	GRCh38
NC_000005.9:g.112176044A>G , CM000667.1:g.112176044A>G	GRCh37
NC_000005.8:g.112203943A>G	NCBI36
NG_008481.4:g.152827A>G , LRG_130:g.152827A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.4807A>G	ENSP00000473355.2:p.Thr1603Ala
ENST00000505350.2:c.*4759A>G	ENSP00000481752.1:n.*4759A>G
ENST00000507379.6:c.4699A>G	ENSP00000423224.2:p.Thr1567Ala
ENST00000509732.6:c.4753A>G	ENSP00000426541.2:p.Thr1585Ala
ENST00000512211.7:c.4753A>G	ENSP00000423828.3:p.Thr1585Ala
ENST00000257430.9:c.4753A>G MANE Select	ENSP00000257430.4:p.Thr1585Ala
ENST00000257430.8:c.4753A>G	ENSP00000257430.4:p.Thr1585Ala
ENST00000508376.6:c.4753A>G	ENSP00000427089.2:p.Thr1585Ala
ENST00000508624.5:c.*4075A>G	ENSP00000424265.1:n.*4075A>G
ENST00000520401.1:c.230+11375A>G
NM_000038.5:c.4753A>G	NP_000029.2:p.Thr1585Ala
NM_001127510.2:c.4753A>G	NP_001120982.1:p.Thr1585Ala
NM_001127511.2:c.4699A>G	NP_001120983.2:p.Thr1567Ala
NM_001354895.1:c.4753A>G	NP_001341824.1:p.Thr1585Ala
NM_001354896.1:c.4807A>G	NP_001341825.1:p.Thr1603Ala
NM_001354897.1:c.4783A>G	NP_001341826.1:p.Thr1595Ala
NM_001354898.1:c.4678A>G	NP_001341827.1:p.Thr1560Ala
NM_001354899.1:c.4669A>G	NP_001341828.1:p.Thr1557Ala
NM_001354900.1:c.4630A>G	NP_001341829.1:p.Thr1544Ala
NM_001354901.1:c.4576A>G	NP_001341830.1:p.Thr1526Ala
NM_001354902.1:c.4480A>G	NP_001341831.1:p.Thr1494Ala
NM_001354903.1:c.4450A>G	NP_001341832.1:p.Thr1484Ala
NM_001354904.1:c.4375A>G	NP_001341833.1:p.Thr1459Ala
NM_001354905.1:c.4273A>G	NP_001341834.1:p.Thr1425Ala
NM_001354906.1:c.3904A>G	NP_001341835.1:p.Thr1302Ala
NM_000038.6:c.4753A>G MANE Select	NP_000029.2:p.Thr1585Ala
NM_001127510.3:c.4753A>G	NP_001120982.1:p.Thr1585Ala
NM_001127511.3:c.4699A>G	NP_001120983.2:p.Thr1567Ala
NM_001354895.2:c.4753A>G	NP_001341824.1:p.Thr1585Ala
NM_001354896.2:c.4807A>G	NP_001341825.1:p.Thr1603Ala
NM_001354897.2:c.4783A>G	NP_001341826.1:p.Thr1595Ala
NM_001354898.2:c.4678A>G	NP_001341827.1:p.Thr1560Ala
NM_001354899.2:c.4669A>G	NP_001341828.1:p.Thr1557Ala
NM_001354900.2:c.4630A>G	NP_001341829.1:p.Thr1544Ala
NM_001354901.2:c.4576A>G	NP_001341830.1:p.Thr1526Ala
NM_001354902.2:c.4480A>G	NP_001341831.1:p.Thr1494Ala
NM_001354903.2:c.4450A>G	NP_001341832.1:p.Thr1484Ala
NM_001354904.2:c.4375A>G	NP_001341833.1:p.Thr1459Ala
NM_001354905.2:c.4273A>G	NP_001341834.1:p.Thr1425Ala
NM_001354906.2:c.3904A>G	NP_001341835.1:p.Thr1302Ala