Canonical Allele Identifier: CA059369

Gene: APC

Linked Data

• ClinVar Variation Id: 371851
• ClinVar RCV Id: RCV000410042 ; RCV002465647 ; RCV003418089 ; RCV003535698
• dbSNP Id: rs770241997
• ExAC: 5:112043485 C / T
• gnomAD v2: 5-112043485-C-T
• gnomAD v3: 5-112707788-C-T
• gnomAD v4: 5-112707788-C-T
• MyVariant Identifiers: chr5:g.112043485C>T (hg19) ; chr5:g.112707788C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112707788C>T , CM000667.2:g.112707788C>T	GRCh38
NC_000005.9:g.112043485C>T , CM000667.1:g.112043485C>T	GRCh37
NC_000005.8:g.112071384C>T	NCBI36
NG_008481.4:g.20268C>T , LRG_130:g.20268C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000505350.2:c.71C>T	ENSP00000481752.1:p.Ser24Phe
ENST00000507379.6:c.71C>T	ENSP00000423224.2:p.Ser24Phe
ENST00000509732.6:c.-19+139C>T	ENSP00000426541.2:n.-19+139C>T
ENST00000505350.1:c.71C>T	ENSP00000481752.1:p.Ser24Phe
ENST00000507379.5:c.71C>T	ENSP00000423224.1:p.Ser24Phe
ENST00000509732.5:c.-19+139C>T	ENSP00000426541.1:n.-19+139C>T
NM_001127511.2:c.71C>T	NP_001120983.2:p.Ser24Phe
NM_001354895.1:c.-113C>T	NP_001341824.1:n.-113C>T
NM_001354897.1:c.71C>T	NP_001341826.1:p.Ser24Phe
NM_001354902.1:c.71C>T	NP_001341831.1:p.Ser24Phe
NM_001127511.3:c.71C>T	NP_001120983.2:p.Ser24Phe
NM_001354895.2:c.-113C>T	NP_001341824.1:n.-113C>T
NM_001354897.2:c.71C>T	NP_001341826.1:p.Ser24Phe
NM_001354902.2:c.71C>T	NP_001341831.1:p.Ser24Phe