Canonical Allele Identifier: CA16028636

Gene: APC

Linked Data

• ClinVar Variation Id: 1385987
• ClinVar RCV Id: RCV003534768
• dbSNP Id: rs2149889708
• MyVariant Identifiers: chr5:g.112174622G>C (hg19) ; chr5:g.112838925G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112838925G>C , CM000667.2:g.112838925G>C	GRCh38
NC_000005.9:g.112174622G>C , CM000667.1:g.112174622G>C	GRCh37
NC_000005.8:g.112202521G>C	NCBI36
NG_008481.4:g.151405G>C , LRG_130:g.151405G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502371.3:c.2996G>C	ENSP00000484935.2:n.2996G>C
ENST00000504915.3:c.3385G>C	ENSP00000473355.2:p.Glu1129Gln
ENST00000505350.2:c.*3337G>C	ENSP00000481752.1:n.*3337G>C
ENST00000507379.6:c.3277G>C	ENSP00000423224.2:p.Glu1093Gln
ENST00000509732.6:c.3331G>C	ENSP00000426541.2:p.Glu1111Gln
ENST00000512211.7:c.3331G>C	ENSP00000423828.3:p.Glu1111Gln
ENST00000257430.9:c.3331G>C MANE Select	ENSP00000257430.4:p.Glu1111Gln
ENST00000257430.8:c.3331G>C	ENSP00000257430.4:p.Glu1111Gln
ENST00000502371.2:c.1684G>C
ENST00000507379.5:c.3277G>C	ENSP00000423224.1:p.Glu1093Gln
ENST00000508376.6:c.3331G>C	ENSP00000427089.2:p.Glu1111Gln
ENST00000508624.5:c.*2653G>C	ENSP00000424265.1:n.*2653G>C
ENST00000512211.6:c.3331G>C	ENSP00000423828.2:p.Glu1111Gln
ENST00000520401.1:c.230+9953G>C
NM_000038.5:c.3331G>C	NP_000029.2:p.Glu1111Gln
NM_001127510.2:c.3331G>C	NP_001120982.1:p.Glu1111Gln
NM_001127511.2:c.3277G>C	NP_001120983.2:p.Glu1093Gln
NM_001354895.1:c.3331G>C	NP_001341824.1:p.Glu1111Gln
NM_001354896.1:c.3385G>C	NP_001341825.1:p.Glu1129Gln
NM_001354897.1:c.3361G>C	NP_001341826.1:p.Glu1121Gln
NM_001354898.1:c.3256G>C	NP_001341827.1:p.Glu1086Gln
NM_001354899.1:c.3247G>C	NP_001341828.1:p.Glu1083Gln
NM_001354900.1:c.3208G>C	NP_001341829.1:p.Glu1070Gln
NM_001354901.1:c.3154G>C	NP_001341830.1:p.Glu1052Gln
NM_001354902.1:c.3058G>C	NP_001341831.1:p.Glu1020Gln
NM_001354903.1:c.3028G>C	NP_001341832.1:p.Glu1010Gln
NM_001354904.1:c.2953G>C	NP_001341833.1:p.Glu985Gln
NM_001354905.1:c.2851G>C	NP_001341834.1:p.Glu951Gln
NM_001354906.1:c.2482G>C	NP_001341835.1:p.Glu828Gln
NM_000038.6:c.3331G>C MANE Select	NP_000029.2:p.Glu1111Gln
NM_001127510.3:c.3331G>C	NP_001120982.1:p.Glu1111Gln
NM_001127511.3:c.3277G>C	NP_001120983.2:p.Glu1093Gln
NM_001354895.2:c.3331G>C	NP_001341824.1:p.Glu1111Gln
NM_001354896.2:c.3385G>C	NP_001341825.1:p.Glu1129Gln
NM_001354897.2:c.3361G>C	NP_001341826.1:p.Glu1121Gln
NM_001354898.2:c.3256G>C	NP_001341827.1:p.Glu1086Gln
NM_001354899.2:c.3247G>C	NP_001341828.1:p.Glu1083Gln
NM_001354900.2:c.3208G>C	NP_001341829.1:p.Glu1070Gln
NM_001354901.2:c.3154G>C	NP_001341830.1:p.Glu1052Gln
NM_001354902.2:c.3058G>C	NP_001341831.1:p.Glu1020Gln
NM_001354903.2:c.3028G>C	NP_001341832.1:p.Glu1010Gln
NM_001354904.2:c.2953G>C	NP_001341833.1:p.Glu985Gln
NM_001354905.2:c.2851G>C	NP_001341834.1:p.Glu951Gln
NM_001354906.2:c.2482G>C	NP_001341835.1:p.Glu828Gln