Canonical Allele Identifier: CA16029054

Gene: APC

Linked Data

• ClinVar Variation Id: 946225
• ClinVar RCV Id: RCV002451486 ; RCV002480716 ; RCV003770253
• dbSNP Id: rs1024630299
• gnomAD v3: 5-112839109-A-T
• gnomAD v4: 5-112839109-A-T
• MyVariant Identifiers: chr5:g.112174806A>T (hg19) ; chr5:g.112839109A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112839109A>T , CM000667.2:g.112839109A>T	GRCh38
NC_000005.9:g.112174806A>T , CM000667.1:g.112174806A>T	GRCh37
NC_000005.8:g.112202705A>T	NCBI36
NG_008481.4:g.151589A>T , LRG_130:g.151589A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502371.3:c.3180A>T	ENSP00000484935.2:n.3180A>T
ENST00000504915.3:c.3569A>T	ENSP00000473355.2:p.His1190Leu
ENST00000505350.2:c.*3521A>T	ENSP00000481752.1:n.*3521A>T
ENST00000507379.6:c.3461A>T	ENSP00000423224.2:p.His1154Leu
ENST00000509732.6:c.3515A>T	ENSP00000426541.2:p.His1172Leu
ENST00000512211.7:c.3515A>T	ENSP00000423828.3:p.His1172Leu
ENST00000257430.9:c.3515A>T MANE Select	ENSP00000257430.4:p.His1172Leu
ENST00000257430.8:c.3515A>T	ENSP00000257430.4:p.His1172Leu
ENST00000502371.2:c.1868A>T
ENST00000508376.6:c.3515A>T	ENSP00000427089.2:p.His1172Leu
ENST00000508624.5:c.*2837A>T	ENSP00000424265.1:n.*2837A>T
ENST00000512211.6:c.3515A>T	ENSP00000423828.2:p.His1172Leu
ENST00000520401.1:c.230+10137A>T
NM_000038.5:c.3515A>T	NP_000029.2:p.His1172Leu
NM_001127510.2:c.3515A>T	NP_001120982.1:p.His1172Leu
NM_001127511.2:c.3461A>T	NP_001120983.2:p.His1154Leu
NM_001354895.1:c.3515A>T	NP_001341824.1:p.His1172Leu
NM_001354896.1:c.3569A>T	NP_001341825.1:p.His1190Leu
NM_001354897.1:c.3545A>T	NP_001341826.1:p.His1182Leu
NM_001354898.1:c.3440A>T	NP_001341827.1:p.His1147Leu
NM_001354899.1:c.3431A>T	NP_001341828.1:p.His1144Leu
NM_001354900.1:c.3392A>T	NP_001341829.1:p.His1131Leu
NM_001354901.1:c.3338A>T	NP_001341830.1:p.His1113Leu
NM_001354902.1:c.3242A>T	NP_001341831.1:p.His1081Leu
NM_001354903.1:c.3212A>T	NP_001341832.1:p.His1071Leu
NM_001354904.1:c.3137A>T	NP_001341833.1:p.His1046Leu
NM_001354905.1:c.3035A>T	NP_001341834.1:p.His1012Leu
NM_001354906.1:c.2666A>T	NP_001341835.1:p.His889Leu
NM_000038.6:c.3515A>T MANE Select	NP_000029.2:p.His1172Leu
NM_001127510.3:c.3515A>T	NP_001120982.1:p.His1172Leu
NM_001127511.3:c.3461A>T	NP_001120983.2:p.His1154Leu
NM_001354895.2:c.3515A>T	NP_001341824.1:p.His1172Leu
NM_001354896.2:c.3569A>T	NP_001341825.1:p.His1190Leu
NM_001354897.2:c.3545A>T	NP_001341826.1:p.His1182Leu
NM_001354898.2:c.3440A>T	NP_001341827.1:p.His1147Leu
NM_001354899.2:c.3431A>T	NP_001341828.1:p.His1144Leu
NM_001354900.2:c.3392A>T	NP_001341829.1:p.His1131Leu
NM_001354901.2:c.3338A>T	NP_001341830.1:p.His1113Leu
NM_001354902.2:c.3242A>T	NP_001341831.1:p.His1081Leu
NM_001354903.2:c.3212A>T	NP_001341832.1:p.His1071Leu
NM_001354904.2:c.3137A>T	NP_001341833.1:p.His1046Leu
NM_001354905.2:c.3035A>T	NP_001341834.1:p.His1012Leu
NM_001354906.2:c.2666A>T	NP_001341835.1:p.His889Leu