Canonical Allele Identifier: CA16031521

Gene: APC

Linked Data

• dbSNP Id: rs2149920049
• MyVariant Identifiers: chr5:g.112175940A>T (hg19) ; chr5:g.112840243A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112840243A>T , CM000667.2:g.112840243A>T	GRCh38
NC_000005.9:g.112175940A>T , CM000667.1:g.112175940A>T	GRCh37
NC_000005.8:g.112203839A>T	NCBI36
NG_008481.4:g.152723A>T , LRG_130:g.152723A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.4703A>T	ENSP00000473355.2:p.Glu1568Val
ENST00000505350.2:c.*4655A>T	ENSP00000481752.1:n.*4655A>T
ENST00000507379.6:c.4595A>T	ENSP00000423224.2:p.Glu1532Val
ENST00000509732.6:c.4649A>T	ENSP00000426541.2:p.Glu1550Val
ENST00000512211.7:c.4649A>T	ENSP00000423828.3:p.Glu1550Val
ENST00000257430.9:c.4649A>T MANE Select	ENSP00000257430.4:p.Glu1550Val
ENST00000257430.8:c.4649A>T	ENSP00000257430.4:p.Glu1550Val
ENST00000508376.6:c.4649A>T	ENSP00000427089.2:p.Glu1550Val
ENST00000508624.5:c.*3971A>T	ENSP00000424265.1:n.*3971A>T
ENST00000520401.1:c.230+11271A>T
NM_000038.5:c.4649A>T	NP_000029.2:p.Glu1550Val
NM_001127510.2:c.4649A>T	NP_001120982.1:p.Glu1550Val
NM_001127511.2:c.4595A>T	NP_001120983.2:p.Glu1532Val
NM_001354895.1:c.4649A>T	NP_001341824.1:p.Glu1550Val
NM_001354896.1:c.4703A>T	NP_001341825.1:p.Glu1568Val
NM_001354897.1:c.4679A>T	NP_001341826.1:p.Glu1560Val
NM_001354898.1:c.4574A>T	NP_001341827.1:p.Glu1525Val
NM_001354899.1:c.4565A>T	NP_001341828.1:p.Glu1522Val
NM_001354900.1:c.4526A>T	NP_001341829.1:p.Glu1509Val
NM_001354901.1:c.4472A>T	NP_001341830.1:p.Glu1491Val
NM_001354902.1:c.4376A>T	NP_001341831.1:p.Glu1459Val
NM_001354903.1:c.4346A>T	NP_001341832.1:p.Glu1449Val
NM_001354904.1:c.4271A>T	NP_001341833.1:p.Glu1424Val
NM_001354905.1:c.4169A>T	NP_001341834.1:p.Glu1390Val
NM_001354906.1:c.3800A>T	NP_001341835.1:p.Glu1267Val
NM_000038.6:c.4649A>T MANE Select	NP_000029.2:p.Glu1550Val
NM_001127510.3:c.4649A>T	NP_001120982.1:p.Glu1550Val
NM_001127511.3:c.4595A>T	NP_001120983.2:p.Glu1532Val
NM_001354895.2:c.4649A>T	NP_001341824.1:p.Glu1550Val
NM_001354896.2:c.4703A>T	NP_001341825.1:p.Glu1568Val
NM_001354897.2:c.4679A>T	NP_001341826.1:p.Glu1560Val
NM_001354898.2:c.4574A>T	NP_001341827.1:p.Glu1525Val
NM_001354899.2:c.4565A>T	NP_001341828.1:p.Glu1522Val
NM_001354900.2:c.4526A>T	NP_001341829.1:p.Glu1509Val
NM_001354901.2:c.4472A>T	NP_001341830.1:p.Glu1491Val
NM_001354902.2:c.4376A>T	NP_001341831.1:p.Glu1459Val
NM_001354903.2:c.4346A>T	NP_001341832.1:p.Glu1449Val
NM_001354904.2:c.4271A>T	NP_001341833.1:p.Glu1424Val
NM_001354905.2:c.4169A>T	NP_001341834.1:p.Glu1390Val
NM_001354906.2:c.3800A>T	NP_001341835.1:p.Glu1267Val