Canonical Allele Identifier: CA16023902

Gene: APC

Linked Data

• dbSNP Id: rs2149782258
• MyVariant Identifiers: chr5:g.112154916A>C (hg19) ; chr5:g.112819219A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112819219A>C , CM000667.2:g.112819219A>C	GRCh38
NC_000005.9:g.112154916A>C , CM000667.1:g.112154916A>C	GRCh37
NC_000005.8:g.112182815A>C	NCBI36
NG_008481.4:g.131699A>C , LRG_130:g.131699A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502371.3:c.1187A>C	ENSP00000484935.2:p.Asp396Ala
ENST00000504915.3:c.1187A>C	ENSP00000473355.2:p.Asp396Ala
ENST00000505084.2:n.1243A>C
ENST00000505350.2:c.*1193A>C	ENSP00000481752.1:n.*1193A>C
ENST00000507379.6:c.1133A>C	ENSP00000423224.2:p.Asp378Ala
ENST00000509732.6:c.1187A>C	ENSP00000426541.2:p.Asp396Ala
ENST00000512211.7:c.1187A>C	ENSP00000423828.3:p.Asp396Ala
ENST00000257430.9:c.1187A>C MANE Select	ENSP00000257430.4:p.Asp396Ala
ENST00000257430.8:c.1187A>C	ENSP00000257430.4:p.Asp396Ala
ENST00000507379.5:c.1133A>C	ENSP00000423224.1:p.Asp378Ala
ENST00000508376.6:c.1187A>C	ENSP00000427089.2:p.Asp396Ala
ENST00000508624.5:c.*509A>C	ENSP00000424265.1:n.*509A>C
ENST00000512211.6:c.1187A>C	ENSP00000423828.2:p.Asp396Ala
NM_000038.5:c.1187A>C	NP_000029.2:p.Asp396Ala
NM_001127510.2:c.1187A>C	NP_001120982.1:p.Asp396Ala
NM_001127511.2:c.1133A>C	NP_001120983.2:p.Asp378Ala
NM_001354895.1:c.1187A>C	NP_001341824.1:p.Asp396Ala
NM_001354896.1:c.1187A>C	NP_001341825.1:p.Asp396Ala
NM_001354897.1:c.1217A>C	NP_001341826.1:p.Asp406Ala
NM_001354898.1:c.1112A>C	NP_001341827.1:p.Asp371Ala
NM_001354899.1:c.1103A>C	NP_001341828.1:p.Asp368Ala
NM_001354900.1:c.1010A>C	NP_001341829.1:p.Asp337Ala
NM_001354901.1:c.1010A>C	NP_001341830.1:p.Asp337Ala
NM_001354902.1:c.964-50A>C	NP_001341831.1:n.964-50A>C
NM_001354903.1:c.934-50A>C	NP_001341832.1:n.934-50A>C
NM_001354904.1:c.859-50A>C	NP_001341833.1:n.859-50A>C
NM_001354905.1:c.757-50A>C	NP_001341834.1:n.757-50A>C
NM_001354906.1:c.338A>C	NP_001341835.1:p.Asp113Ala
NM_000038.6:c.1187A>C MANE Select	NP_000029.2:p.Asp396Ala
NM_001127510.3:c.1187A>C	NP_001120982.1:p.Asp396Ala
NM_001127511.3:c.1133A>C	NP_001120983.2:p.Asp378Ala
NM_001354895.2:c.1187A>C	NP_001341824.1:p.Asp396Ala
NM_001354896.2:c.1187A>C	NP_001341825.1:p.Asp396Ala
NM_001354897.2:c.1217A>C	NP_001341826.1:p.Asp406Ala
NM_001354898.2:c.1112A>C	NP_001341827.1:p.Asp371Ala
NM_001354899.2:c.1103A>C	NP_001341828.1:p.Asp368Ala
NM_001354900.2:c.1010A>C	NP_001341829.1:p.Asp337Ala
NM_001354901.2:c.1010A>C	NP_001341830.1:p.Asp337Ala
NM_001354902.2:c.964-50A>C	NP_001341831.1:n.964-50A>C
NM_001354903.2:c.934-50A>C	NP_001341832.1:n.934-50A>C
NM_001354904.2:c.859-50A>C	NP_001341833.1:n.859-50A>C
NM_001354905.2:c.757-50A>C	NP_001341834.1:n.757-50A>C
NM_001354906.2:c.338A>C	NP_001341835.1:p.Asp113Ala