Canonical Allele Identifier: CA013579

Gene: APC

Linked Data

• ClinVar Variation Id: 186663
• ClinVar RCV Id: RCV000166294 ; RCV000412218 ; RCV000588450 ; RCV003316051
• dbSNP Id: rs786203125
• gnomAD v4: 5-112801276-C-T
• MyVariant Identifiers: chr5:g.112136973C>T (hg19) ; chr5:g.112801276C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112801276C>T , CM000667.2:g.112801276C>T	GRCh38
NC_000005.9:g.112136973C>T , CM000667.1:g.112136973C>T	GRCh37
NC_000005.8:g.112164872C>T	NCBI36
NG_008481.4:g.113756C>T , LRG_130:g.113756C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502371.3:c.730-3C>T	ENSP00000484935.2:n.730-3C>T
ENST00000504915.3:c.730-3C>T	ENSP00000473355.2:n.730-3C>T
ENST00000505084.2:n.786-3C>T
ENST00000505350.2:c.*736-3C>T	ENSP00000481752.1:n.*736-3C>T
ENST00000507379.6:c.676-3C>T	ENSP00000423224.2:n.676-3C>T
ENST00000509732.6:c.730-3C>T	ENSP00000426541.2:n.730-3C>T
ENST00000512211.7:c.730-3C>T	ENSP00000423828.3:n.730-3C>T
ENST00000257430.9:c.730-3C>T MANE Select	ENSP00000257430.4:n.730-3C>T
ENST00000257430.8:c.730-3C>T	ENSP00000257430.4:n.730-3C>T
ENST00000507379.5:c.676-3C>T	ENSP00000423224.1:n.676-3C>T
ENST00000508376.6:c.730-3C>T	ENSP00000427089.2:n.730-3C>T
ENST00000508624.5:c.730-3C>T	ENSP00000424265.1:n.730-3C>T
ENST00000512211.6:c.730-3C>T	ENSP00000423828.2:n.730-3C>T
NM_000038.5:c.730-3C>T	NP_000029.2:n.730-3C>T
NM_001127510.2:c.730-3C>T	NP_001120982.1:n.730-3C>T
NM_001127511.2:c.676-3C>T	NP_001120983.2:n.676-3C>T
NM_001354895.1:c.730-3C>T	NP_001341824.1:n.730-3C>T
NM_001354896.1:c.730-3C>T	NP_001341825.1:n.730-3C>T
NM_001354897.1:c.760-3C>T	NP_001341826.1:n.760-3C>T
NM_001354898.1:c.655-3C>T	NP_001341827.1:n.655-3C>T
NM_001354899.1:c.646-3C>T	NP_001341828.1:n.646-3C>T
NM_001354900.1:c.553-3C>T	NP_001341829.1:n.553-3C>T
NM_001354901.1:c.553-3C>T	NP_001341830.1:n.553-3C>T
NM_001354902.1:c.760-3C>T	NP_001341831.1:n.760-3C>T
NM_001354903.1:c.730-3C>T	NP_001341832.1:n.730-3C>T
NM_001354904.1:c.655-3C>T	NP_001341833.1:n.655-3C>T
NM_001354905.1:c.553-3C>T	NP_001341834.1:n.553-3C>T
NM_001354906.1:c.-306-3C>T	NP_001341835.1:n.-306-3C>T
NM_000038.6:c.730-3C>T MANE Select	NP_000029.2:n.730-3C>T
NM_001127510.3:c.730-3C>T	NP_001120982.1:n.730-3C>T
NM_001127511.3:c.676-3C>T	NP_001120983.2:n.676-3C>T
NM_001354895.2:c.730-3C>T	NP_001341824.1:n.730-3C>T
NM_001354896.2:c.730-3C>T	NP_001341825.1:n.730-3C>T
NM_001354897.2:c.760-3C>T	NP_001341826.1:n.760-3C>T
NM_001354898.2:c.655-3C>T	NP_001341827.1:n.655-3C>T
NM_001354899.2:c.646-3C>T	NP_001341828.1:n.646-3C>T
NM_001354900.2:c.553-3C>T	NP_001341829.1:n.553-3C>T
NM_001354901.2:c.553-3C>T	NP_001341830.1:n.553-3C>T
NM_001354902.2:c.760-3C>T	NP_001341831.1:n.760-3C>T
NM_001354903.2:c.730-3C>T	NP_001341832.1:n.730-3C>T
NM_001354904.2:c.655-3C>T	NP_001341833.1:n.655-3C>T
NM_001354905.2:c.553-3C>T	NP_001341834.1:n.553-3C>T
NM_001354906.2:c.-306-3C>T	NP_001341835.1:n.-306-3C>T