Canonical Allele Identifier: CA16028653

Gene: APC

Linked Data

• ClinVar Variation Id: 1481791
• ClinVar RCV Id: RCV002324440 ; RCV002592517
• dbSNP Id: rs2149889854
• gnomAD v4: 5-112838932-A-T
• MyVariant Identifiers: chr5:g.112174629A>T (hg19) ; chr5:g.112838932A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112838932A>T , CM000667.2:g.112838932A>T	GRCh38
NC_000005.9:g.112174629A>T , CM000667.1:g.112174629A>T	GRCh37
NC_000005.8:g.112202528A>T	NCBI36
NG_008481.4:g.151412A>T , LRG_130:g.151412A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502371.3:c.3003A>T	ENSP00000484935.2:n.3003A>T
ENST00000504915.3:c.3392A>T	ENSP00000473355.2:p.Asn1131Ile
ENST00000505350.2:c.*3344A>T	ENSP00000481752.1:n.*3344A>T
ENST00000507379.6:c.3284A>T	ENSP00000423224.2:p.Asn1095Ile
ENST00000509732.6:c.3338A>T	ENSP00000426541.2:p.Asn1113Ile
ENST00000512211.7:c.3338A>T	ENSP00000423828.3:p.Asn1113Ile
ENST00000257430.9:c.3338A>T MANE Select	ENSP00000257430.4:p.Asn1113Ile
ENST00000257430.8:c.3338A>T	ENSP00000257430.4:p.Asn1113Ile
ENST00000502371.2:c.1691A>T
ENST00000507379.5:c.3284A>T	ENSP00000423224.1:p.Asn1095Ile
ENST00000508376.6:c.3338A>T	ENSP00000427089.2:p.Asn1113Ile
ENST00000508624.5:c.*2660A>T	ENSP00000424265.1:n.*2660A>T
ENST00000512211.6:c.3338A>T	ENSP00000423828.2:p.Asn1113Ile
ENST00000520401.1:c.230+9960A>T
NM_000038.5:c.3338A>T	NP_000029.2:p.Asn1113Ile
NM_001127510.2:c.3338A>T	NP_001120982.1:p.Asn1113Ile
NM_001127511.2:c.3284A>T	NP_001120983.2:p.Asn1095Ile
NM_001354895.1:c.3338A>T	NP_001341824.1:p.Asn1113Ile
NM_001354896.1:c.3392A>T	NP_001341825.1:p.Asn1131Ile
NM_001354897.1:c.3368A>T	NP_001341826.1:p.Asn1123Ile
NM_001354898.1:c.3263A>T	NP_001341827.1:p.Asn1088Ile
NM_001354899.1:c.3254A>T	NP_001341828.1:p.Asn1085Ile
NM_001354900.1:c.3215A>T	NP_001341829.1:p.Asn1072Ile
NM_001354901.1:c.3161A>T	NP_001341830.1:p.Asn1054Ile
NM_001354902.1:c.3065A>T	NP_001341831.1:p.Asn1022Ile
NM_001354903.1:c.3035A>T	NP_001341832.1:p.Asn1012Ile
NM_001354904.1:c.2960A>T	NP_001341833.1:p.Asn987Ile
NM_001354905.1:c.2858A>T	NP_001341834.1:p.Asn953Ile
NM_001354906.1:c.2489A>T	NP_001341835.1:p.Asn830Ile
NM_000038.6:c.3338A>T MANE Select	NP_000029.2:p.Asn1113Ile
NM_001127510.3:c.3338A>T	NP_001120982.1:p.Asn1113Ile
NM_001127511.3:c.3284A>T	NP_001120983.2:p.Asn1095Ile
NM_001354895.2:c.3338A>T	NP_001341824.1:p.Asn1113Ile
NM_001354896.2:c.3392A>T	NP_001341825.1:p.Asn1131Ile
NM_001354897.2:c.3368A>T	NP_001341826.1:p.Asn1123Ile
NM_001354898.2:c.3263A>T	NP_001341827.1:p.Asn1088Ile
NM_001354899.2:c.3254A>T	NP_001341828.1:p.Asn1085Ile
NM_001354900.2:c.3215A>T	NP_001341829.1:p.Asn1072Ile
NM_001354901.2:c.3161A>T	NP_001341830.1:p.Asn1054Ile
NM_001354902.2:c.3065A>T	NP_001341831.1:p.Asn1022Ile
NM_001354903.2:c.3035A>T	NP_001341832.1:p.Asn1012Ile
NM_001354904.2:c.2960A>T	NP_001341833.1:p.Asn987Ile
NM_001354905.2:c.2858A>T	NP_001341834.1:p.Asn953Ile
NM_001354906.2:c.2489A>T	NP_001341835.1:p.Asn830Ile