Canonical Allele Identifier: CA16031687

Gene: APC

Linked Data

• dbSNP Id: rs2149922046
• MyVariant Identifiers: chr5:g.112176012T>G (hg19) ; chr5:g.112840315T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112840315T>G , CM000667.2:g.112840315T>G	GRCh38
NC_000005.9:g.112176012T>G , CM000667.1:g.112176012T>G	GRCh37
NC_000005.8:g.112203911T>G	NCBI36
NG_008481.4:g.152795T>G , LRG_130:g.152795T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.4775T>G	ENSP00000473355.2:p.Ile1592Arg
ENST00000505350.2:c.*4727T>G	ENSP00000481752.1:n.*4727T>G
ENST00000507379.6:c.4667T>G	ENSP00000423224.2:p.Ile1556Arg
ENST00000509732.6:c.4721T>G	ENSP00000426541.2:p.Ile1574Arg
ENST00000512211.7:c.4721T>G	ENSP00000423828.3:p.Ile1574Arg
ENST00000257430.9:c.4721T>G MANE Select	ENSP00000257430.4:p.Ile1574Arg
ENST00000257430.8:c.4721T>G	ENSP00000257430.4:p.Ile1574Arg
ENST00000508376.6:c.4721T>G	ENSP00000427089.2:p.Ile1574Arg
ENST00000508624.5:c.*4043T>G	ENSP00000424265.1:n.*4043T>G
ENST00000520401.1:c.230+11343T>G
NM_000038.5:c.4721T>G	NP_000029.2:p.Ile1574Arg
NM_001127510.2:c.4721T>G	NP_001120982.1:p.Ile1574Arg
NM_001127511.2:c.4667T>G	NP_001120983.2:p.Ile1556Arg
NM_001354895.1:c.4721T>G	NP_001341824.1:p.Ile1574Arg
NM_001354896.1:c.4775T>G	NP_001341825.1:p.Ile1592Arg
NM_001354897.1:c.4751T>G	NP_001341826.1:p.Ile1584Arg
NM_001354898.1:c.4646T>G	NP_001341827.1:p.Ile1549Arg
NM_001354899.1:c.4637T>G	NP_001341828.1:p.Ile1546Arg
NM_001354900.1:c.4598T>G	NP_001341829.1:p.Ile1533Arg
NM_001354901.1:c.4544T>G	NP_001341830.1:p.Ile1515Arg
NM_001354902.1:c.4448T>G	NP_001341831.1:p.Ile1483Arg
NM_001354903.1:c.4418T>G	NP_001341832.1:p.Ile1473Arg
NM_001354904.1:c.4343T>G	NP_001341833.1:p.Ile1448Arg
NM_001354905.1:c.4241T>G	NP_001341834.1:p.Ile1414Arg
NM_001354906.1:c.3872T>G	NP_001341835.1:p.Ile1291Arg
NM_000038.6:c.4721T>G MANE Select	NP_000029.2:p.Ile1574Arg
NM_001127510.3:c.4721T>G	NP_001120982.1:p.Ile1574Arg
NM_001127511.3:c.4667T>G	NP_001120983.2:p.Ile1556Arg
NM_001354895.2:c.4721T>G	NP_001341824.1:p.Ile1574Arg
NM_001354896.2:c.4775T>G	NP_001341825.1:p.Ile1592Arg
NM_001354897.2:c.4751T>G	NP_001341826.1:p.Ile1584Arg
NM_001354898.2:c.4646T>G	NP_001341827.1:p.Ile1549Arg
NM_001354899.2:c.4637T>G	NP_001341828.1:p.Ile1546Arg
NM_001354900.2:c.4598T>G	NP_001341829.1:p.Ile1533Arg
NM_001354901.2:c.4544T>G	NP_001341830.1:p.Ile1515Arg
NM_001354902.2:c.4448T>G	NP_001341831.1:p.Ile1483Arg
NM_001354903.2:c.4418T>G	NP_001341832.1:p.Ile1473Arg
NM_001354904.2:c.4343T>G	NP_001341833.1:p.Ile1448Arg
NM_001354905.2:c.4241T>G	NP_001341834.1:p.Ile1414Arg
NM_001354906.2:c.3872T>G	NP_001341835.1:p.Ile1291Arg