Canonical Allele Identifier: CA16028686

Gene: APC

Linked Data

• ClinVar Variation Id: 537483
• ClinVar RCV Id: RCV001020071 ; RCV002530048
• dbSNP Id: rs1554084962
• MyVariant Identifiers: chr5:g.112174647A>T (hg19) ; chr5:g.112838950A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112838950A>T , CM000667.2:g.112838950A>T	GRCh38
NC_000005.9:g.112174647A>T , CM000667.1:g.112174647A>T	GRCh37
NC_000005.8:g.112202546A>T	NCBI36
NG_008481.4:g.151430A>T , LRG_130:g.151430A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502371.3:c.3021A>T	ENSP00000484935.2:n.3021A>T
ENST00000504915.3:c.3410A>T	ENSP00000473355.2:p.His1137Leu
ENST00000505350.2:c.*3362A>T	ENSP00000481752.1:n.*3362A>T
ENST00000507379.6:c.3302A>T	ENSP00000423224.2:p.His1101Leu
ENST00000509732.6:c.3356A>T	ENSP00000426541.2:p.His1119Leu
ENST00000512211.7:c.3356A>T	ENSP00000423828.3:p.His1119Leu
ENST00000257430.9:c.3356A>T MANE Select	ENSP00000257430.4:p.His1119Leu
ENST00000257430.8:c.3356A>T	ENSP00000257430.4:p.His1119Leu
ENST00000502371.2:c.1709A>T
ENST00000507379.5:c.3302A>T	ENSP00000423224.1:p.His1101Leu
ENST00000508376.6:c.3356A>T	ENSP00000427089.2:p.His1119Leu
ENST00000508624.5:c.*2678A>T	ENSP00000424265.1:n.*2678A>T
ENST00000512211.6:c.3356A>T	ENSP00000423828.2:p.His1119Leu
ENST00000520401.1:c.230+9978A>T
NM_000038.5:c.3356A>T	NP_000029.2:p.His1119Leu
NM_001127510.2:c.3356A>T	NP_001120982.1:p.His1119Leu
NM_001127511.2:c.3302A>T	NP_001120983.2:p.His1101Leu
NM_001354895.1:c.3356A>T	NP_001341824.1:p.His1119Leu
NM_001354896.1:c.3410A>T	NP_001341825.1:p.His1137Leu
NM_001354897.1:c.3386A>T	NP_001341826.1:p.His1129Leu
NM_001354898.1:c.3281A>T	NP_001341827.1:p.His1094Leu
NM_001354899.1:c.3272A>T	NP_001341828.1:p.His1091Leu
NM_001354900.1:c.3233A>T	NP_001341829.1:p.His1078Leu
NM_001354901.1:c.3179A>T	NP_001341830.1:p.His1060Leu
NM_001354902.1:c.3083A>T	NP_001341831.1:p.His1028Leu
NM_001354903.1:c.3053A>T	NP_001341832.1:p.His1018Leu
NM_001354904.1:c.2978A>T	NP_001341833.1:p.His993Leu
NM_001354905.1:c.2876A>T	NP_001341834.1:p.His959Leu
NM_001354906.1:c.2507A>T	NP_001341835.1:p.His836Leu
NM_000038.6:c.3356A>T MANE Select	NP_000029.2:p.His1119Leu
NM_001127510.3:c.3356A>T	NP_001120982.1:p.His1119Leu
NM_001127511.3:c.3302A>T	NP_001120983.2:p.His1101Leu
NM_001354895.2:c.3356A>T	NP_001341824.1:p.His1119Leu
NM_001354896.2:c.3410A>T	NP_001341825.1:p.His1137Leu
NM_001354897.2:c.3386A>T	NP_001341826.1:p.His1129Leu
NM_001354898.2:c.3281A>T	NP_001341827.1:p.His1094Leu
NM_001354899.2:c.3272A>T	NP_001341828.1:p.His1091Leu
NM_001354900.2:c.3233A>T	NP_001341829.1:p.His1078Leu
NM_001354901.2:c.3179A>T	NP_001341830.1:p.His1060Leu
NM_001354902.2:c.3083A>T	NP_001341831.1:p.His1028Leu
NM_001354903.2:c.3053A>T	NP_001341832.1:p.His1018Leu
NM_001354904.2:c.2978A>T	NP_001341833.1:p.His993Leu
NM_001354905.2:c.2876A>T	NP_001341834.1:p.His959Leu
NM_001354906.2:c.2507A>T	NP_001341835.1:p.His836Leu