Canonical Allele Identifier: CA16037491

Gene: APC

Linked Data

• dbSNP Id: rs1766473251
• MyVariant Identifiers: chr5:g.112178717A>T (hg19) ; chr5:g.112843020A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112843020A>T , CM000667.2:g.112843020A>T	GRCh38
NC_000005.9:g.112178717A>T , CM000667.1:g.112178717A>T	GRCh37
NC_000005.8:g.112206616A>T	NCBI36
NG_008481.4:g.155500A>T , LRG_130:g.155500A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000504915.3:c.7480A>T	ENSP00000473355.2:p.Arg2494Trp
ENST00000505350.2:c.*7432A>T	ENSP00000481752.1:n.*7432A>T
ENST00000507379.6:c.7372A>T	ENSP00000423224.2:p.Arg2458Trp
ENST00000509732.6:c.7426A>T	ENSP00000426541.2:p.Arg2476Trp
ENST00000512211.7:c.7426A>T	ENSP00000423828.3:p.Arg2476Trp
ENST00000257430.9:c.7426A>T MANE Select	ENSP00000257430.4:p.Arg2476Trp
ENST00000257430.8:c.7426A>T	ENSP00000257430.4:p.Arg2476Trp
ENST00000508376.6:c.7426A>T	ENSP00000427089.2:p.Arg2476Trp
ENST00000520401.1:c.231-13629A>T
NM_000038.5:c.7426A>T	NP_000029.2:p.Arg2476Trp
NM_001127510.2:c.7426A>T	NP_001120982.1:p.Arg2476Trp
NM_001127511.2:c.7372A>T	NP_001120983.2:p.Arg2458Trp
NM_001354895.1:c.7426A>T	NP_001341824.1:p.Arg2476Trp
NM_001354896.1:c.7480A>T	NP_001341825.1:p.Arg2494Trp
NM_001354897.1:c.7456A>T	NP_001341826.1:p.Arg2486Trp
NM_001354898.1:c.7351A>T	NP_001341827.1:p.Arg2451Trp
NM_001354899.1:c.7342A>T	NP_001341828.1:p.Arg2448Trp
NM_001354900.1:c.7303A>T	NP_001341829.1:p.Arg2435Trp
NM_001354901.1:c.7249A>T	NP_001341830.1:p.Arg2417Trp
NM_001354902.1:c.7153A>T	NP_001341831.1:p.Arg2385Trp
NM_001354903.1:c.7123A>T	NP_001341832.1:p.Arg2375Trp
NM_001354904.1:c.7048A>T	NP_001341833.1:p.Arg2350Trp
NM_001354905.1:c.6946A>T	NP_001341834.1:p.Arg2316Trp
NM_001354906.1:c.6577A>T	NP_001341835.1:p.Arg2193Trp
NM_000038.6:c.7426A>T MANE Select	NP_000029.2:p.Arg2476Trp
NM_001127510.3:c.7426A>T	NP_001120982.1:p.Arg2476Trp
NM_001127511.3:c.7372A>T	NP_001120983.2:p.Arg2458Trp
NM_001354895.2:c.7426A>T	NP_001341824.1:p.Arg2476Trp
NM_001354896.2:c.7480A>T	NP_001341825.1:p.Arg2494Trp
NM_001354897.2:c.7456A>T	NP_001341826.1:p.Arg2486Trp
NM_001354898.2:c.7351A>T	NP_001341827.1:p.Arg2451Trp
NM_001354899.2:c.7342A>T	NP_001341828.1:p.Arg2448Trp
NM_001354900.2:c.7303A>T	NP_001341829.1:p.Arg2435Trp
NM_001354901.2:c.7249A>T	NP_001341830.1:p.Arg2417Trp
NM_001354902.2:c.7153A>T	NP_001341831.1:p.Arg2385Trp
NM_001354903.2:c.7123A>T	NP_001341832.1:p.Arg2375Trp
NM_001354904.2:c.7048A>T	NP_001341833.1:p.Arg2350Trp
NM_001354905.2:c.6946A>T	NP_001341834.1:p.Arg2316Trp
NM_001354906.2:c.6577A>T	NP_001341835.1:p.Arg2193Trp