Canonical Allele Identifier: CA035593

Gene: APC

Linked Data

• ClinVar Variation Id: 233118
• ClinVar RCV Id: RCV000213754 ; RCV000985297 ; RCV003535580
• dbSNP Id: rs753325428
• ExAC: 5:112174800 A / G
• gnomAD v2: 5-112174800-A-G
• gnomAD v3: 5-112839103-A-G
• gnomAD v4: 5-112839103-A-G
• MyVariant Identifiers: chr5:g.112174800A>G (hg19) ; chr5:g.112839103A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112839103A>G , CM000667.2:g.112839103A>G	GRCh38
NC_000005.9:g.112174800A>G , CM000667.1:g.112174800A>G	GRCh37
NC_000005.8:g.112202699A>G	NCBI36
NG_008481.4:g.151583A>G , LRG_130:g.151583A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502371.3:c.3174A>G	ENSP00000484935.2:n.3174A>G
ENST00000504915.3:c.3563A>G	ENSP00000473355.2:p.Lys1188Arg
ENST00000505350.2:c.*3515A>G	ENSP00000481752.1:n.*3515A>G
ENST00000507379.6:c.3455A>G	ENSP00000423224.2:p.Lys1152Arg
ENST00000509732.6:c.3509A>G	ENSP00000426541.2:p.Lys1170Arg
ENST00000512211.7:c.3509A>G	ENSP00000423828.3:p.Lys1170Arg
ENST00000257430.9:c.3509A>G MANE Select	ENSP00000257430.4:p.Lys1170Arg
ENST00000257430.8:c.3509A>G	ENSP00000257430.4:p.Lys1170Arg
ENST00000502371.2:c.1862A>G
ENST00000508376.6:c.3509A>G	ENSP00000427089.2:p.Lys1170Arg
ENST00000508624.5:c.*2831A>G	ENSP00000424265.1:n.*2831A>G
ENST00000512211.6:c.3509A>G	ENSP00000423828.2:p.Lys1170Arg
ENST00000520401.1:c.230+10131A>G
NM_000038.5:c.3509A>G	NP_000029.2:p.Lys1170Arg
NM_001127510.2:c.3509A>G	NP_001120982.1:p.Lys1170Arg
NM_001127511.2:c.3455A>G	NP_001120983.2:p.Lys1152Arg
NM_001354895.1:c.3509A>G	NP_001341824.1:p.Lys1170Arg
NM_001354896.1:c.3563A>G	NP_001341825.1:p.Lys1188Arg
NM_001354897.1:c.3539A>G	NP_001341826.1:p.Lys1180Arg
NM_001354898.1:c.3434A>G	NP_001341827.1:p.Lys1145Arg
NM_001354899.1:c.3425A>G	NP_001341828.1:p.Lys1142Arg
NM_001354900.1:c.3386A>G	NP_001341829.1:p.Lys1129Arg
NM_001354901.1:c.3332A>G	NP_001341830.1:p.Lys1111Arg
NM_001354902.1:c.3236A>G	NP_001341831.1:p.Lys1079Arg
NM_001354903.1:c.3206A>G	NP_001341832.1:p.Lys1069Arg
NM_001354904.1:c.3131A>G	NP_001341833.1:p.Lys1044Arg
NM_001354905.1:c.3029A>G	NP_001341834.1:p.Lys1010Arg
NM_001354906.1:c.2660A>G	NP_001341835.1:p.Lys887Arg
NM_000038.6:c.3509A>G MANE Select	NP_000029.2:p.Lys1170Arg
NM_001127510.3:c.3509A>G	NP_001120982.1:p.Lys1170Arg
NM_001127511.3:c.3455A>G	NP_001120983.2:p.Lys1152Arg
NM_001354895.2:c.3509A>G	NP_001341824.1:p.Lys1170Arg
NM_001354896.2:c.3563A>G	NP_001341825.1:p.Lys1188Arg
NM_001354897.2:c.3539A>G	NP_001341826.1:p.Lys1180Arg
NM_001354898.2:c.3434A>G	NP_001341827.1:p.Lys1145Arg
NM_001354899.2:c.3425A>G	NP_001341828.1:p.Lys1142Arg
NM_001354900.2:c.3386A>G	NP_001341829.1:p.Lys1129Arg
NM_001354901.2:c.3332A>G	NP_001341830.1:p.Lys1111Arg
NM_001354902.2:c.3236A>G	NP_001341831.1:p.Lys1079Arg
NM_001354903.2:c.3206A>G	NP_001341832.1:p.Lys1069Arg
NM_001354904.2:c.3131A>G	NP_001341833.1:p.Lys1044Arg
NM_001354905.2:c.3029A>G	NP_001341834.1:p.Lys1010Arg
NM_001354906.2:c.2660A>G	NP_001341835.1:p.Lys887Arg