Canonical Allele Identifier: CA16028754

Gene: APC

Linked Data

• ClinVar Variation Id: 1430558
• ClinVar RCV Id: RCV003365577 ; RCV003772869
• dbSNP Id: rs2149890905
• MyVariant Identifiers: chr5:g.112174679T>C (hg19) ; chr5:g.112838982T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112838982T>C , CM000667.2:g.112838982T>C	GRCh38
NC_000005.9:g.112174679T>C , CM000667.1:g.112174679T>C	GRCh37
NC_000005.8:g.112202578T>C	NCBI36
NG_008481.4:g.151462T>C , LRG_130:g.151462T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502371.3:c.3053T>C	ENSP00000484935.2:n.3053T>C
ENST00000504915.3:c.3442T>C	ENSP00000473355.2:p.Cys1148Arg
ENST00000505350.2:c.*3394T>C	ENSP00000481752.1:n.*3394T>C
ENST00000507379.6:c.3334T>C	ENSP00000423224.2:p.Cys1112Arg
ENST00000509732.6:c.3388T>C	ENSP00000426541.2:p.Cys1130Arg
ENST00000512211.7:c.3388T>C	ENSP00000423828.3:p.Cys1130Arg
ENST00000257430.9:c.3388T>C MANE Select	ENSP00000257430.4:p.Cys1130Arg
ENST00000257430.8:c.3388T>C	ENSP00000257430.4:p.Cys1130Arg
ENST00000502371.2:c.1741T>C
ENST00000507379.5:c.3334T>C	ENSP00000423224.1:p.Cys1112Arg
ENST00000508376.6:c.3388T>C	ENSP00000427089.2:p.Cys1130Arg
ENST00000508624.5:c.*2710T>C	ENSP00000424265.1:n.*2710T>C
ENST00000512211.6:c.3388T>C	ENSP00000423828.2:p.Cys1130Arg
ENST00000520401.1:c.230+10010T>C
NM_000038.5:c.3388T>C	NP_000029.2:p.Cys1130Arg
NM_001127510.2:c.3388T>C	NP_001120982.1:p.Cys1130Arg
NM_001127511.2:c.3334T>C	NP_001120983.2:p.Cys1112Arg
NM_001354895.1:c.3388T>C	NP_001341824.1:p.Cys1130Arg
NM_001354896.1:c.3442T>C	NP_001341825.1:p.Cys1148Arg
NM_001354897.1:c.3418T>C	NP_001341826.1:p.Cys1140Arg
NM_001354898.1:c.3313T>C	NP_001341827.1:p.Cys1105Arg
NM_001354899.1:c.3304T>C	NP_001341828.1:p.Cys1102Arg
NM_001354900.1:c.3265T>C	NP_001341829.1:p.Cys1089Arg
NM_001354901.1:c.3211T>C	NP_001341830.1:p.Cys1071Arg
NM_001354902.1:c.3115T>C	NP_001341831.1:p.Cys1039Arg
NM_001354903.1:c.3085T>C	NP_001341832.1:p.Cys1029Arg
NM_001354904.1:c.3010T>C	NP_001341833.1:p.Cys1004Arg
NM_001354905.1:c.2908T>C	NP_001341834.1:p.Cys970Arg
NM_001354906.1:c.2539T>C	NP_001341835.1:p.Cys847Arg
NM_000038.6:c.3388T>C MANE Select	NP_000029.2:p.Cys1130Arg
NM_001127510.3:c.3388T>C	NP_001120982.1:p.Cys1130Arg
NM_001127511.3:c.3334T>C	NP_001120983.2:p.Cys1112Arg
NM_001354895.2:c.3388T>C	NP_001341824.1:p.Cys1130Arg
NM_001354896.2:c.3442T>C	NP_001341825.1:p.Cys1148Arg
NM_001354897.2:c.3418T>C	NP_001341826.1:p.Cys1140Arg
NM_001354898.2:c.3313T>C	NP_001341827.1:p.Cys1105Arg
NM_001354899.2:c.3304T>C	NP_001341828.1:p.Cys1102Arg
NM_001354900.2:c.3265T>C	NP_001341829.1:p.Cys1089Arg
NM_001354901.2:c.3211T>C	NP_001341830.1:p.Cys1071Arg
NM_001354902.2:c.3115T>C	NP_001341831.1:p.Cys1039Arg
NM_001354903.2:c.3085T>C	NP_001341832.1:p.Cys1029Arg
NM_001354904.2:c.3010T>C	NP_001341833.1:p.Cys1004Arg
NM_001354905.2:c.2908T>C	NP_001341834.1:p.Cys970Arg
NM_001354906.2:c.2539T>C	NP_001341835.1:p.Cys847Arg