Canonical Allele Identifier: CA16031684

Gene: APC

Linked Data

• dbSNP Id: rs2149922034
• MyVariant Identifiers: chr5:g.112176011A>T (hg19) ; chr5:g.112840314A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112840314A>T , CM000667.2:g.112840314A>T	GRCh38
NC_000005.9:g.112176011A>T , CM000667.1:g.112176011A>T	GRCh37
NC_000005.8:g.112203910A>T	NCBI36
NG_008481.4:g.152794A>T , LRG_130:g.152794A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.4774A>T	ENSP00000473355.2:p.Ile1592Leu
ENST00000505350.2:c.*4726A>T	ENSP00000481752.1:n.*4726A>T
ENST00000507379.6:c.4666A>T	ENSP00000423224.2:p.Ile1556Leu
ENST00000509732.6:c.4720A>T	ENSP00000426541.2:p.Ile1574Leu
ENST00000512211.7:c.4720A>T	ENSP00000423828.3:p.Ile1574Leu
ENST00000257430.9:c.4720A>T MANE Select	ENSP00000257430.4:p.Ile1574Leu
ENST00000257430.8:c.4720A>T	ENSP00000257430.4:p.Ile1574Leu
ENST00000508376.6:c.4720A>T	ENSP00000427089.2:p.Ile1574Leu
ENST00000508624.5:c.*4042A>T	ENSP00000424265.1:n.*4042A>T
ENST00000520401.1:c.230+11342A>T
NM_000038.5:c.4720A>T	NP_000029.2:p.Ile1574Leu
NM_001127510.2:c.4720A>T	NP_001120982.1:p.Ile1574Leu
NM_001127511.2:c.4666A>T	NP_001120983.2:p.Ile1556Leu
NM_001354895.1:c.4720A>T	NP_001341824.1:p.Ile1574Leu
NM_001354896.1:c.4774A>T	NP_001341825.1:p.Ile1592Leu
NM_001354897.1:c.4750A>T	NP_001341826.1:p.Ile1584Leu
NM_001354898.1:c.4645A>T	NP_001341827.1:p.Ile1549Leu
NM_001354899.1:c.4636A>T	NP_001341828.1:p.Ile1546Leu
NM_001354900.1:c.4597A>T	NP_001341829.1:p.Ile1533Leu
NM_001354901.1:c.4543A>T	NP_001341830.1:p.Ile1515Leu
NM_001354902.1:c.4447A>T	NP_001341831.1:p.Ile1483Leu
NM_001354903.1:c.4417A>T	NP_001341832.1:p.Ile1473Leu
NM_001354904.1:c.4342A>T	NP_001341833.1:p.Ile1448Leu
NM_001354905.1:c.4240A>T	NP_001341834.1:p.Ile1414Leu
NM_001354906.1:c.3871A>T	NP_001341835.1:p.Ile1291Leu
NM_000038.6:c.4720A>T MANE Select	NP_000029.2:p.Ile1574Leu
NM_001127510.3:c.4720A>T	NP_001120982.1:p.Ile1574Leu
NM_001127511.3:c.4666A>T	NP_001120983.2:p.Ile1556Leu
NM_001354895.2:c.4720A>T	NP_001341824.1:p.Ile1574Leu
NM_001354896.2:c.4774A>T	NP_001341825.1:p.Ile1592Leu
NM_001354897.2:c.4750A>T	NP_001341826.1:p.Ile1584Leu
NM_001354898.2:c.4645A>T	NP_001341827.1:p.Ile1549Leu
NM_001354899.2:c.4636A>T	NP_001341828.1:p.Ile1546Leu
NM_001354900.2:c.4597A>T	NP_001341829.1:p.Ile1533Leu
NM_001354901.2:c.4543A>T	NP_001341830.1:p.Ile1515Leu
NM_001354902.2:c.4447A>T	NP_001341831.1:p.Ile1483Leu
NM_001354903.2:c.4417A>T	NP_001341832.1:p.Ile1473Leu
NM_001354904.2:c.4342A>T	NP_001341833.1:p.Ile1448Leu
NM_001354905.2:c.4240A>T	NP_001341834.1:p.Ile1414Leu
NM_001354906.2:c.3871A>T	NP_001341835.1:p.Ile1291Leu