Canonical Allele Identifier: CA16037955

Gene: APC

Linked Data

• ClinVar Variation Id: 411452
• ClinVar RCV Id: RCV001190633 ; RCV002230537
• dbSNP Id: rs1060503314
• MyVariant Identifiers: chr5:g.112178943A>T (hg19) ; chr5:g.112843246A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112843246A>T , CM000667.2:g.112843246A>T	GRCh38
NC_000005.9:g.112178943A>T , CM000667.1:g.112178943A>T	GRCh37
NC_000005.8:g.112206842A>T	NCBI36
NG_008481.4:g.155726A>T , LRG_130:g.155726A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000504915.3:c.7706A>T	ENSP00000473355.2:p.His2569Leu
ENST00000505350.2:c.*7658A>T	ENSP00000481752.1:n.*7658A>T
ENST00000507379.6:c.7598A>T	ENSP00000423224.2:p.His2533Leu
ENST00000509732.6:c.7652A>T	ENSP00000426541.2:p.His2551Leu
ENST00000512211.7:c.7652A>T	ENSP00000423828.3:p.His2551Leu
ENST00000257430.9:c.7652A>T MANE Select	ENSP00000257430.4:p.His2551Leu
ENST00000257430.8:c.7652A>T	ENSP00000257430.4:p.His2551Leu
ENST00000508376.6:c.7652A>T	ENSP00000427089.2:p.His2551Leu
ENST00000520401.1:c.231-13403A>T
NM_000038.5:c.7652A>T	NP_000029.2:p.His2551Leu
NM_001127510.2:c.7652A>T	NP_001120982.1:p.His2551Leu
NM_001127511.2:c.7598A>T	NP_001120983.2:p.His2533Leu
NM_001354895.1:c.7652A>T	NP_001341824.1:p.His2551Leu
NM_001354896.1:c.7706A>T	NP_001341825.1:p.His2569Leu
NM_001354897.1:c.7682A>T	NP_001341826.1:p.His2561Leu
NM_001354898.1:c.7577A>T	NP_001341827.1:p.His2526Leu
NM_001354899.1:c.7568A>T	NP_001341828.1:p.His2523Leu
NM_001354900.1:c.7529A>T	NP_001341829.1:p.His2510Leu
NM_001354901.1:c.7475A>T	NP_001341830.1:p.His2492Leu
NM_001354902.1:c.7379A>T	NP_001341831.1:p.His2460Leu
NM_001354903.1:c.7349A>T	NP_001341832.1:p.His2450Leu
NM_001354904.1:c.7274A>T	NP_001341833.1:p.His2425Leu
NM_001354905.1:c.7172A>T	NP_001341834.1:p.His2391Leu
NM_001354906.1:c.6803A>T	NP_001341835.1:p.His2268Leu
NM_000038.6:c.7652A>T MANE Select	NP_000029.2:p.His2551Leu
NM_001127510.3:c.7652A>T	NP_001120982.1:p.His2551Leu
NM_001127511.3:c.7598A>T	NP_001120983.2:p.His2533Leu
NM_001354895.2:c.7652A>T	NP_001341824.1:p.His2551Leu
NM_001354896.2:c.7706A>T	NP_001341825.1:p.His2569Leu
NM_001354897.2:c.7682A>T	NP_001341826.1:p.His2561Leu
NM_001354898.2:c.7577A>T	NP_001341827.1:p.His2526Leu
NM_001354899.2:c.7568A>T	NP_001341828.1:p.His2523Leu
NM_001354900.2:c.7529A>T	NP_001341829.1:p.His2510Leu
NM_001354901.2:c.7475A>T	NP_001341830.1:p.His2492Leu
NM_001354902.2:c.7379A>T	NP_001341831.1:p.His2460Leu
NM_001354903.2:c.7349A>T	NP_001341832.1:p.His2450Leu
NM_001354904.2:c.7274A>T	NP_001341833.1:p.His2425Leu
NM_001354905.2:c.7172A>T	NP_001341834.1:p.His2391Leu
NM_001354906.2:c.6803A>T	NP_001341835.1:p.His2268Leu