Canonical Allele Identifier: CA015580

Gene: APC

Linked Data

• ClinVar Variation Id: 82736
• ClinVar RCV Id: RCV000073725
• dbSNP Id: rs75996864
• MyVariant Identifiers: chr5:g.112073557T>G (hg19) ; chr5:g.112737860T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112737860T>G , CM000667.2:g.112737860T>G	GRCh38
NC_000005.9:g.112073557T>G , CM000667.1:g.112073557T>G	GRCh37
NC_000005.8:g.112101456T>G	NCBI36
NG_008481.4:g.50340T>G , LRG_130:g.50340T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000505350.2:c.166-17013T>G	ENSP00000481752.1:n.166-17013T>G
ENST00000507379.6:c.166-28466T>G	ENSP00000423224.2:n.166-28466T>G
ENST00000509732.6:c.-18-17013T>G	ENSP00000426541.2:n.-18-17013T>G
ENST00000505350.1:c.166-17013T>G	ENSP00000481752.1:n.166-17013T>G
ENST00000507379.5:c.166-28466T>G	ENSP00000423224.1:n.166-28466T>G
ENST00000509732.5:c.-18-17013T>G	ENSP00000426541.1:n.-18-17013T>G
NM_000038.5:c.-84T>G	NP_000029.2:n.-84T>G
NM_001127510.2:c.-192T>G	NP_001120982.1:n.-192T>G
NM_001127511.2:c.166-28466T>G	NP_001120983.2:n.166-28466T>G
NM_001354895.1:c.-18-17013T>G	NP_001341824.1:n.-18-17013T>G
NM_001354896.1:c.-84T>G	NP_001341825.1:n.-84T>G
NM_001354897.1:c.166-28466T>G	NP_001341826.1:n.166-28466T>G
NM_001354898.1:c.-114T>G	NP_001341827.1:n.-114T>G
NM_001354899.1:c.-84T>G	NP_001341828.1:n.-84T>G
NM_001354900.1:c.-108T>G	NP_001341829.1:n.-108T>G
NM_001354901.1:c.-108T>G	NP_001341830.1:n.-108T>G
NM_001354902.1:c.166-28466T>G	NP_001341831.1:n.166-28466T>G
NM_001354903.1:c.-84T>G	NP_001341832.1:n.-84T>G
NM_001354904.1:c.-114T>G	NP_001341833.1:n.-114T>G
NM_001354905.1:c.-108T>G	NP_001341834.1:n.-108T>G
NM_001354906.1:c.-1119T>G	NP_001341835.1:n.-1119T>G
NM_001127511.3:c.166-28466T>G	NP_001120983.2:n.166-28466T>G
NM_001354895.2:c.-18-17013T>G	NP_001341824.1:n.-18-17013T>G
NM_001354897.2:c.166-28466T>G	NP_001341826.1:n.166-28466T>G
NM_001354902.2:c.166-28466T>G	NP_001341831.1:n.166-28466T>G