Canonical Allele Identifier: CA16028963

Gene: APC

Linked Data

• ClinVar Variation Id: 482346
• ClinVar RCV Id: RCV000561063 ; RCV002232117
• dbSNP Id: rs1554085046
• MyVariant Identifiers: chr5:g.112174767C>G (hg19) ; chr5:g.112839070C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112839070C>G , CM000667.2:g.112839070C>G	GRCh38
NC_000005.9:g.112174767C>G , CM000667.1:g.112174767C>G	GRCh37
NC_000005.8:g.112202666C>G	NCBI36
NG_008481.4:g.151550C>G , LRG_130:g.151550C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502371.3:c.3141C>G	ENSP00000484935.2:n.3141C>G
ENST00000504915.3:c.3530C>G	ENSP00000473355.2:p.Pro1177Arg
ENST00000505350.2:c.*3482C>G	ENSP00000481752.1:n.*3482C>G
ENST00000507379.6:c.3422C>G	ENSP00000423224.2:p.Pro1141Arg
ENST00000509732.6:c.3476C>G	ENSP00000426541.2:p.Pro1159Arg
ENST00000512211.7:c.3476C>G	ENSP00000423828.3:p.Pro1159Arg
ENST00000257430.9:c.3476C>G MANE Select	ENSP00000257430.4:p.Pro1159Arg
ENST00000257430.8:c.3476C>G	ENSP00000257430.4:p.Pro1159Arg
ENST00000502371.2:c.1829C>G
ENST00000508376.6:c.3476C>G	ENSP00000427089.2:p.Pro1159Arg
ENST00000508624.5:c.*2798C>G	ENSP00000424265.1:n.*2798C>G
ENST00000512211.6:c.3476C>G	ENSP00000423828.2:p.Pro1159Arg
ENST00000520401.1:c.230+10098C>G
NM_000038.5:c.3476C>G	NP_000029.2:p.Pro1159Arg
NM_001127510.2:c.3476C>G	NP_001120982.1:p.Pro1159Arg
NM_001127511.2:c.3422C>G	NP_001120983.2:p.Pro1141Arg
NM_001354895.1:c.3476C>G	NP_001341824.1:p.Pro1159Arg
NM_001354896.1:c.3530C>G	NP_001341825.1:p.Pro1177Arg
NM_001354897.1:c.3506C>G	NP_001341826.1:p.Pro1169Arg
NM_001354898.1:c.3401C>G	NP_001341827.1:p.Pro1134Arg
NM_001354899.1:c.3392C>G	NP_001341828.1:p.Pro1131Arg
NM_001354900.1:c.3353C>G	NP_001341829.1:p.Pro1118Arg
NM_001354901.1:c.3299C>G	NP_001341830.1:p.Pro1100Arg
NM_001354902.1:c.3203C>G	NP_001341831.1:p.Pro1068Arg
NM_001354903.1:c.3173C>G	NP_001341832.1:p.Pro1058Arg
NM_001354904.1:c.3098C>G	NP_001341833.1:p.Pro1033Arg
NM_001354905.1:c.2996C>G	NP_001341834.1:p.Pro999Arg
NM_001354906.1:c.2627C>G	NP_001341835.1:p.Pro876Arg
NM_000038.6:c.3476C>G MANE Select	NP_000029.2:p.Pro1159Arg
NM_001127510.3:c.3476C>G	NP_001120982.1:p.Pro1159Arg
NM_001127511.3:c.3422C>G	NP_001120983.2:p.Pro1141Arg
NM_001354895.2:c.3476C>G	NP_001341824.1:p.Pro1159Arg
NM_001354896.2:c.3530C>G	NP_001341825.1:p.Pro1177Arg
NM_001354897.2:c.3506C>G	NP_001341826.1:p.Pro1169Arg
NM_001354898.2:c.3401C>G	NP_001341827.1:p.Pro1134Arg
NM_001354899.2:c.3392C>G	NP_001341828.1:p.Pro1131Arg
NM_001354900.2:c.3353C>G	NP_001341829.1:p.Pro1118Arg
NM_001354901.2:c.3299C>G	NP_001341830.1:p.Pro1100Arg
NM_001354902.2:c.3203C>G	NP_001341831.1:p.Pro1068Arg
NM_001354903.2:c.3173C>G	NP_001341832.1:p.Pro1058Arg
NM_001354904.2:c.3098C>G	NP_001341833.1:p.Pro1033Arg
NM_001354905.2:c.2996C>G	NP_001341834.1:p.Pro999Arg
NM_001354906.2:c.2627C>G	NP_001341835.1:p.Pro876Arg