Canonical Allele Identifier: CA16028707

Gene: APC

Linked Data

• dbSNP Id: rs1765405918
• gnomAD v3: 5-112838960-T-A
• gnomAD v4: 5-112838960-T-A
• MyVariant Identifiers: chr5:g.112174657T>A (hg19) ; chr5:g.112838960T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112838960T>A , CM000667.2:g.112838960T>A	GRCh38
NC_000005.9:g.112174657T>A , CM000667.1:g.112174657T>A	GRCh37
NC_000005.8:g.112202556T>A	NCBI36
NG_008481.4:g.151440T>A , LRG_130:g.151440T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502371.3:c.3031T>A	ENSP00000484935.2:n.3031T>A
ENST00000504915.3:c.3420T>A	ENSP00000473355.2:p.Asn1140Lys
ENST00000505350.2:c.*3372T>A	ENSP00000481752.1:n.*3372T>A
ENST00000507379.6:c.3312T>A	ENSP00000423224.2:p.Asn1104Lys
ENST00000509732.6:c.3366T>A	ENSP00000426541.2:p.Asn1122Lys
ENST00000512211.7:c.3366T>A	ENSP00000423828.3:p.Asn1122Lys
ENST00000257430.9:c.3366T>A MANE Select	ENSP00000257430.4:p.Asn1122Lys
ENST00000257430.8:c.3366T>A	ENSP00000257430.4:p.Asn1122Lys
ENST00000502371.2:c.1719T>A
ENST00000507379.5:c.3312T>A	ENSP00000423224.1:p.Asn1104Lys
ENST00000508376.6:c.3366T>A	ENSP00000427089.2:p.Asn1122Lys
ENST00000508624.5:c.*2688T>A	ENSP00000424265.1:n.*2688T>A
ENST00000512211.6:c.3366T>A	ENSP00000423828.2:p.Asn1122Lys
ENST00000520401.1:c.230+9988T>A
NM_000038.5:c.3366T>A	NP_000029.2:p.Asn1122Lys
NM_001127510.2:c.3366T>A	NP_001120982.1:p.Asn1122Lys
NM_001127511.2:c.3312T>A	NP_001120983.2:p.Asn1104Lys
NM_001354895.1:c.3366T>A	NP_001341824.1:p.Asn1122Lys
NM_001354896.1:c.3420T>A	NP_001341825.1:p.Asn1140Lys
NM_001354897.1:c.3396T>A	NP_001341826.1:p.Asn1132Lys
NM_001354898.1:c.3291T>A	NP_001341827.1:p.Asn1097Lys
NM_001354899.1:c.3282T>A	NP_001341828.1:p.Asn1094Lys
NM_001354900.1:c.3243T>A	NP_001341829.1:p.Asn1081Lys
NM_001354901.1:c.3189T>A	NP_001341830.1:p.Asn1063Lys
NM_001354902.1:c.3093T>A	NP_001341831.1:p.Asn1031Lys
NM_001354903.1:c.3063T>A	NP_001341832.1:p.Asn1021Lys
NM_001354904.1:c.2988T>A	NP_001341833.1:p.Asn996Lys
NM_001354905.1:c.2886T>A	NP_001341834.1:p.Asn962Lys
NM_001354906.1:c.2517T>A	NP_001341835.1:p.Asn839Lys
NM_000038.6:c.3366T>A MANE Select	NP_000029.2:p.Asn1122Lys
NM_001127510.3:c.3366T>A	NP_001120982.1:p.Asn1122Lys
NM_001127511.3:c.3312T>A	NP_001120983.2:p.Asn1104Lys
NM_001354895.2:c.3366T>A	NP_001341824.1:p.Asn1122Lys
NM_001354896.2:c.3420T>A	NP_001341825.1:p.Asn1140Lys
NM_001354897.2:c.3396T>A	NP_001341826.1:p.Asn1132Lys
NM_001354898.2:c.3291T>A	NP_001341827.1:p.Asn1097Lys
NM_001354899.2:c.3282T>A	NP_001341828.1:p.Asn1094Lys
NM_001354900.2:c.3243T>A	NP_001341829.1:p.Asn1081Lys
NM_001354901.2:c.3189T>A	NP_001341830.1:p.Asn1063Lys
NM_001354902.2:c.3093T>A	NP_001341831.1:p.Asn1031Lys
NM_001354903.2:c.3063T>A	NP_001341832.1:p.Asn1021Lys
NM_001354904.2:c.2988T>A	NP_001341833.1:p.Asn996Lys
NM_001354905.2:c.2886T>A	NP_001341834.1:p.Asn962Lys
NM_001354906.2:c.2517T>A	NP_001341835.1:p.Asn839Lys