Canonical Allele Identifier: CA16028812

Gene: APC

Linked Data

• ClinVar Variation Id: 2054609
• ClinVar RCV Id: RCV003744812
• dbSNP Id: rs587781452
• gnomAD v4: 5-112839006-G-A
• MyVariant Identifiers: chr5:g.112174703G>A (hg19) ; chr5:g.112839006G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112839006G>A , CM000667.2:g.112839006G>A	GRCh38
NC_000005.9:g.112174703G>A , CM000667.1:g.112174703G>A	GRCh37
NC_000005.8:g.112202602G>A	NCBI36
NG_008481.4:g.151486G>A , LRG_130:g.151486G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502371.3:c.3077G>A	ENSP00000484935.2:n.3077G>A
ENST00000504915.3:c.3466G>A	ENSP00000473355.2:p.Asp1156Asn
ENST00000505350.2:c.*3418G>A	ENSP00000481752.1:n.*3418G>A
ENST00000507379.6:c.3358G>A	ENSP00000423224.2:p.Asp1120Asn
ENST00000509732.6:c.3412G>A	ENSP00000426541.2:p.Asp1138Asn
ENST00000512211.7:c.3412G>A	ENSP00000423828.3:p.Asp1138Asn
ENST00000257430.9:c.3412G>A MANE Select	ENSP00000257430.4:p.Asp1138Asn
ENST00000257430.8:c.3412G>A	ENSP00000257430.4:p.Asp1138Asn
ENST00000502371.2:c.1765G>A
ENST00000507379.5:c.3358G>A	ENSP00000423224.1:p.Asp1120Asn
ENST00000508376.6:c.3412G>A	ENSP00000427089.2:p.Asp1138Asn
ENST00000508624.5:c.*2734G>A	ENSP00000424265.1:n.*2734G>A
ENST00000512211.6:c.3412G>A	ENSP00000423828.2:p.Asp1138Asn
ENST00000520401.1:c.230+10034G>A
NM_000038.5:c.3412G>A	NP_000029.2:p.Asp1138Asn
NM_001127510.2:c.3412G>A	NP_001120982.1:p.Asp1138Asn
NM_001127511.2:c.3358G>A	NP_001120983.2:p.Asp1120Asn
NM_001354895.1:c.3412G>A	NP_001341824.1:p.Asp1138Asn
NM_001354896.1:c.3466G>A	NP_001341825.1:p.Asp1156Asn
NM_001354897.1:c.3442G>A	NP_001341826.1:p.Asp1148Asn
NM_001354898.1:c.3337G>A	NP_001341827.1:p.Asp1113Asn
NM_001354899.1:c.3328G>A	NP_001341828.1:p.Asp1110Asn
NM_001354900.1:c.3289G>A	NP_001341829.1:p.Asp1097Asn
NM_001354901.1:c.3235G>A	NP_001341830.1:p.Asp1079Asn
NM_001354902.1:c.3139G>A	NP_001341831.1:p.Asp1047Asn
NM_001354903.1:c.3109G>A	NP_001341832.1:p.Asp1037Asn
NM_001354904.1:c.3034G>A	NP_001341833.1:p.Asp1012Asn
NM_001354905.1:c.2932G>A	NP_001341834.1:p.Asp978Asn
NM_001354906.1:c.2563G>A	NP_001341835.1:p.Asp855Asn
NM_000038.6:c.3412G>A MANE Select	NP_000029.2:p.Asp1138Asn
NM_001127510.3:c.3412G>A	NP_001120982.1:p.Asp1138Asn
NM_001127511.3:c.3358G>A	NP_001120983.2:p.Asp1120Asn
NM_001354895.2:c.3412G>A	NP_001341824.1:p.Asp1138Asn
NM_001354896.2:c.3466G>A	NP_001341825.1:p.Asp1156Asn
NM_001354897.2:c.3442G>A	NP_001341826.1:p.Asp1148Asn
NM_001354898.2:c.3337G>A	NP_001341827.1:p.Asp1113Asn
NM_001354899.2:c.3328G>A	NP_001341828.1:p.Asp1110Asn
NM_001354900.2:c.3289G>A	NP_001341829.1:p.Asp1097Asn
NM_001354901.2:c.3235G>A	NP_001341830.1:p.Asp1079Asn
NM_001354902.2:c.3139G>A	NP_001341831.1:p.Asp1047Asn
NM_001354903.2:c.3109G>A	NP_001341832.1:p.Asp1037Asn
NM_001354904.2:c.3034G>A	NP_001341833.1:p.Asp1012Asn
NM_001354905.2:c.2932G>A	NP_001341834.1:p.Asp978Asn
NM_001354906.2:c.2563G>A	NP_001341835.1:p.Asp855Asn