Canonical Allele Identifier: CA16036393

Gene: APC

Linked Data

• dbSNP Id: rs1057520984
• MyVariant Identifiers: chr5:g.112178194A>T (hg19) ; chr5:g.112842497A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112842497A>T , CM000667.2:g.112842497A>T	GRCh38
NC_000005.9:g.112178194A>T , CM000667.1:g.112178194A>T	GRCh37
NC_000005.8:g.112206093A>T	NCBI36
NG_008481.4:g.154977A>T , LRG_130:g.154977A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.6957A>T	ENSP00000473355.2:p.Arg2319Ser
ENST00000505350.2:c.*6909A>T	ENSP00000481752.1:n.*6909A>T
ENST00000507379.6:c.6849A>T	ENSP00000423224.2:p.Arg2283Ser
ENST00000509732.6:c.6903A>T	ENSP00000426541.2:p.Arg2301Ser
ENST00000512211.7:c.6903A>T	ENSP00000423828.3:p.Arg2301Ser
ENST00000257430.9:c.6903A>T MANE Select	ENSP00000257430.4:p.Arg2301Ser
ENST00000257430.8:c.6903A>T	ENSP00000257430.4:p.Arg2301Ser
ENST00000508376.6:c.6903A>T	ENSP00000427089.2:p.Arg2301Ser
ENST00000508624.5:c.*6225A>T	ENSP00000424265.1:n.*6225A>T
ENST00000520401.1:c.230+13525A>T
NM_000038.5:c.6903A>T	NP_000029.2:p.Arg2301Ser
NM_001127510.2:c.6903A>T	NP_001120982.1:p.Arg2301Ser
NM_001127511.2:c.6849A>T	NP_001120983.2:p.Arg2283Ser
NM_001354895.1:c.6903A>T	NP_001341824.1:p.Arg2301Ser
NM_001354896.1:c.6957A>T	NP_001341825.1:p.Arg2319Ser
NM_001354897.1:c.6933A>T	NP_001341826.1:p.Arg2311Ser
NM_001354898.1:c.6828A>T	NP_001341827.1:p.Arg2276Ser
NM_001354899.1:c.6819A>T	NP_001341828.1:p.Arg2273Ser
NM_001354900.1:c.6780A>T	NP_001341829.1:p.Arg2260Ser
NM_001354901.1:c.6726A>T	NP_001341830.1:p.Arg2242Ser
NM_001354902.1:c.6630A>T	NP_001341831.1:p.Arg2210Ser
NM_001354903.1:c.6600A>T	NP_001341832.1:p.Arg2200Ser
NM_001354904.1:c.6525A>T	NP_001341833.1:p.Arg2175Ser
NM_001354905.1:c.6423A>T	NP_001341834.1:p.Arg2141Ser
NM_001354906.1:c.6054A>T	NP_001341835.1:p.Arg2018Ser
NM_000038.6:c.6903A>T MANE Select	NP_000029.2:p.Arg2301Ser
NM_001127510.3:c.6903A>T	NP_001120982.1:p.Arg2301Ser
NM_001127511.3:c.6849A>T	NP_001120983.2:p.Arg2283Ser
NM_001354895.2:c.6903A>T	NP_001341824.1:p.Arg2301Ser
NM_001354896.2:c.6957A>T	NP_001341825.1:p.Arg2319Ser
NM_001354897.2:c.6933A>T	NP_001341826.1:p.Arg2311Ser
NM_001354898.2:c.6828A>T	NP_001341827.1:p.Arg2276Ser
NM_001354899.2:c.6819A>T	NP_001341828.1:p.Arg2273Ser
NM_001354900.2:c.6780A>T	NP_001341829.1:p.Arg2260Ser
NM_001354901.2:c.6726A>T	NP_001341830.1:p.Arg2242Ser
NM_001354902.2:c.6630A>T	NP_001341831.1:p.Arg2210Ser
NM_001354903.2:c.6600A>T	NP_001341832.1:p.Arg2200Ser
NM_001354904.2:c.6525A>T	NP_001341833.1:p.Arg2175Ser
NM_001354905.2:c.6423A>T	NP_001341834.1:p.Arg2141Ser
NM_001354906.2:c.6054A>T	NP_001341835.1:p.Arg2018Ser