Canonical Allele Identifier: CA124925242

Gene: APC

Linked Data

• ClinVar Variation Id: 1042946
• ClinVar RCV Id: RCV003538714
• dbSNP Id: rs933496509
• gnomAD v4: 5-112707862-C-T
• MyVariant Identifiers: chr5:g.112043559C>T (hg19) ; chr5:g.112707862C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112707862C>T , CM000667.2:g.112707862C>T	GRCh38
NC_000005.9:g.112043559C>T , CM000667.1:g.112043559C>T	GRCh37
NC_000005.8:g.112071458C>T	NCBI36
NG_008481.4:g.20342C>T , LRG_130:g.20342C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000505350.2:c.145C>T	ENSP00000481752.1:p.His49Tyr
ENST00000507379.6:c.145C>T	ENSP00000423224.2:p.His49Tyr
ENST00000509732.6:c.-19+213C>T	ENSP00000426541.2:n.-19+213C>T
ENST00000505350.1:c.145C>T	ENSP00000481752.1:p.His49Tyr
ENST00000507379.5:c.145C>T	ENSP00000423224.1:p.His49Tyr
ENST00000509732.5:c.-19+213C>T	ENSP00000426541.1:n.-19+213C>T
NM_001127511.2:c.145C>T	NP_001120983.2:p.His49Tyr
NM_001354895.1:c.-39C>T	NP_001341824.1:n.-39C>T
NM_001354897.1:c.145C>T	NP_001341826.1:p.His49Tyr
NM_001354902.1:c.145C>T	NP_001341831.1:p.His49Tyr
NM_001127511.3:c.145C>T	NP_001120983.2:p.His49Tyr
NM_001354895.2:c.-39C>T	NP_001341824.1:n.-39C>T
NM_001354897.2:c.145C>T	NP_001341826.1:p.His49Tyr
NM_001354902.2:c.145C>T	NP_001341831.1:p.His49Tyr