Canonical Allele Identifier: CA012615

Gene: APC

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112792488C>T , CM000667.2:g.112792488C>T	GRCh38
NC_000005.9:g.112128185C>T , CM000667.1:g.112128185C>T	GRCh37
NC_000005.8:g.112156084C>T	NCBI36
NG_008481.4:g.104968C>T , LRG_130:g.104968C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000038.6:c.688C>T MANE Select	NP_000029.2:p.Arg230Cys
ENST00000257430.9:c.688C>T MANE Select	ENSP00000257430.4:p.Arg230Cys
NM_000038.5:c.688C>T	NP_000029.2:p.Arg230Cys
NM_001127510.2:c.688C>T	NP_001120982.1:p.Arg230Cys
NM_001127510.3:c.688C>T	NP_001120982.1:p.Arg230Cys
NM_001127511.2:c.676-8791C>T	NP_001120983.2:n.676-8791C>T
NM_001127511.3:c.676-8791C>T	NP_001120983.2:n.676-8791C>T
NM_001354895.1:c.688C>T	NP_001341824.1:p.Arg230Cys
NM_001354895.2:c.688C>T	NP_001341824.1:p.Arg230Cys
NM_001354896.1:c.688C>T	NP_001341825.1:p.Arg230Cys
NM_001354896.2:c.688C>T	NP_001341825.1:p.Arg230Cys
NM_001354897.1:c.718C>T	NP_001341826.1:p.Arg240Cys
NM_001354897.2:c.718C>T	NP_001341826.1:p.Arg240Cys
NM_001354898.1:c.613C>T	NP_001341827.1:p.Arg205Cys
NM_001354898.2:c.613C>T	NP_001341827.1:p.Arg205Cys
NM_001354899.1:c.646-8791C>T	NP_001341828.1:n.646-8791C>T
NM_001354899.2:c.646-8791C>T	NP_001341828.1:n.646-8791C>T
NM_001354900.1:c.511C>T	NP_001341829.1:p.Arg171Cys
NM_001354900.2:c.511C>T	NP_001341829.1:p.Arg171Cys
NM_001354901.1:c.511C>T	NP_001341830.1:p.Arg171Cys
NM_001354901.2:c.511C>T	NP_001341830.1:p.Arg171Cys
NM_001354902.1:c.718C>T	NP_001341831.1:p.Arg240Cys
NM_001354902.2:c.718C>T	NP_001341831.1:p.Arg240Cys
NM_001354903.1:c.688C>T	NP_001341832.1:p.Arg230Cys
NM_001354903.2:c.688C>T	NP_001341832.1:p.Arg230Cys
NM_001354904.1:c.613C>T	NP_001341833.1:p.Arg205Cys
NM_001354904.2:c.613C>T	NP_001341833.1:p.Arg205Cys
NM_001354905.1:c.511C>T	NP_001341834.1:p.Arg171Cys
NM_001354905.2:c.511C>T	NP_001341834.1:p.Arg171Cys
NM_001354906.1:c.-348C>T	NP_001341835.1:n.-348C>T
NM_001354906.2:c.-348C>T	NP_001341835.1:n.-348C>T
ENST00000257430.8:c.688C>T	ENSP00000257430.4:p.Arg230Cys
ENST00000502371.3:c.688C>T	ENSP00000484935.2:p.Arg230Cys
ENST00000504915.3:c.688C>T	ENSP00000473355.2:p.Arg230Cys
ENST00000505084.2:n.744C>T
ENST00000505350.2:c.*694C>T	ENSP00000481752.1:n.*694C>T
ENST00000507379.5:c.676-8791C>T	ENSP00000423224.1:n.676-8791C>T
ENST00000507379.6:c.676-8791C>T	ENSP00000423224.2:n.676-8791C>T
ENST00000508376.6:c.688C>T	ENSP00000427089.2:p.Arg230Cys
ENST00000508624.5:c.688C>T	ENSP00000424265.1:p.Arg230Cys
ENST00000509732.6:c.688C>T	ENSP00000426541.2:p.Arg230Cys
ENST00000512211.6:c.688C>T	ENSP00000423828.2:p.Arg230Cys
ENST00000512211.7:c.688C>T	ENSP00000423828.3:p.Arg230Cys