Canonical Allele Identifier: CA16028128

Gene: APC

Linked Data

• ClinVar Variation Id: 1716842
• ClinVar RCV Id: RCV003743862
• dbSNP Id: rs1580630877
• MyVariant Identifiers: chr5:g.112174393G>C (hg19) ; chr5:g.112838696G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112838696G>C , CM000667.2:g.112838696G>C	GRCh38
NC_000005.9:g.112174393G>C , CM000667.1:g.112174393G>C	GRCh37
NC_000005.8:g.112202292G>C	NCBI36
NG_008481.4:g.151176G>C , LRG_130:g.151176G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502371.3:c.2767G>C	ENSP00000484935.2:n.2767G>C
ENST00000504915.3:c.3156G>C	ENSP00000473355.2:p.Glu1052Asp
ENST00000505350.2:c.*3108G>C	ENSP00000481752.1:n.*3108G>C
ENST00000507379.6:c.3048G>C	ENSP00000423224.2:p.Glu1016Asp
ENST00000509732.6:c.3102G>C	ENSP00000426541.2:p.Glu1034Asp
ENST00000512211.7:c.3102G>C	ENSP00000423828.3:p.Glu1034Asp
ENST00000257430.9:c.3102G>C MANE Select	ENSP00000257430.4:p.Glu1034Asp
ENST00000257430.8:c.3102G>C	ENSP00000257430.4:p.Glu1034Asp
ENST00000502371.2:c.1455G>C
ENST00000507379.5:c.3048G>C	ENSP00000423224.1:p.Glu1016Asp
ENST00000508376.6:c.3102G>C	ENSP00000427089.2:p.Glu1034Asp
ENST00000508624.5:c.*2424G>C	ENSP00000424265.1:n.*2424G>C
ENST00000512211.6:c.3102G>C	ENSP00000423828.2:p.Glu1034Asp
ENST00000520401.1:c.230+9724G>C
NM_000038.5:c.3102G>C	NP_000029.2:p.Glu1034Asp
NM_001127510.2:c.3102G>C	NP_001120982.1:p.Glu1034Asp
NM_001127511.2:c.3048G>C	NP_001120983.2:p.Glu1016Asp
NM_001354895.1:c.3102G>C	NP_001341824.1:p.Glu1034Asp
NM_001354896.1:c.3156G>C	NP_001341825.1:p.Glu1052Asp
NM_001354897.1:c.3132G>C	NP_001341826.1:p.Glu1044Asp
NM_001354898.1:c.3027G>C	NP_001341827.1:p.Glu1009Asp
NM_001354899.1:c.3018G>C	NP_001341828.1:p.Glu1006Asp
NM_001354900.1:c.2979G>C	NP_001341829.1:p.Glu993Asp
NM_001354901.1:c.2925G>C	NP_001341830.1:p.Glu975Asp
NM_001354902.1:c.2829G>C	NP_001341831.1:p.Glu943Asp
NM_001354903.1:c.2799G>C	NP_001341832.1:p.Glu933Asp
NM_001354904.1:c.2724G>C	NP_001341833.1:p.Glu908Asp
NM_001354905.1:c.2622G>C	NP_001341834.1:p.Glu874Asp
NM_001354906.1:c.2253G>C	NP_001341835.1:p.Glu751Asp
NM_000038.6:c.3102G>C MANE Select	NP_000029.2:p.Glu1034Asp
NM_001127510.3:c.3102G>C	NP_001120982.1:p.Glu1034Asp
NM_001127511.3:c.3048G>C	NP_001120983.2:p.Glu1016Asp
NM_001354895.2:c.3102G>C	NP_001341824.1:p.Glu1034Asp
NM_001354896.2:c.3156G>C	NP_001341825.1:p.Glu1052Asp
NM_001354897.2:c.3132G>C	NP_001341826.1:p.Glu1044Asp
NM_001354898.2:c.3027G>C	NP_001341827.1:p.Glu1009Asp
NM_001354899.2:c.3018G>C	NP_001341828.1:p.Glu1006Asp
NM_001354900.2:c.2979G>C	NP_001341829.1:p.Glu993Asp
NM_001354901.2:c.2925G>C	NP_001341830.1:p.Glu975Asp
NM_001354902.2:c.2829G>C	NP_001341831.1:p.Glu943Asp
NM_001354903.2:c.2799G>C	NP_001341832.1:p.Glu933Asp
NM_001354904.2:c.2724G>C	NP_001341833.1:p.Glu908Asp
NM_001354905.2:c.2622G>C	NP_001341834.1:p.Glu874Asp
NM_001354906.2:c.2253G>C	NP_001341835.1:p.Glu751Asp