Canonical Allele Identifier: CA16611763

Gene: APC

Linked Data

• ClinVar Variation Id: 416761
• ClinVar RCV Id: RCV003766645
• dbSNP Id: rs1060504892
• MyVariant Identifiers: chr5:g.112157585T>A (hg19) ; chr5:g.112821888T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112821888T>A , CM000667.2:g.112821888T>A	GRCh38
NC_000005.9:g.112157585T>A , CM000667.1:g.112157585T>A	GRCh37
NC_000005.8:g.112185484T>A	NCBI36
NG_008481.4:g.134368T>A , LRG_130:g.134368T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502371.3:c.1313-8T>A	ENSP00000484935.2:n.1313-8T>A
ENST00000504915.3:c.1313-8T>A	ENSP00000473355.2:n.1313-8T>A
ENST00000505084.2:n.1369-8T>A
ENST00000505350.2:c.*1319-8T>A	ENSP00000481752.1:n.*1319-8T>A
ENST00000507379.6:c.1259-8T>A	ENSP00000423224.2:n.1259-8T>A
ENST00000509732.6:c.1313-8T>A	ENSP00000426541.2:n.1313-8T>A
ENST00000512211.7:c.1313-8T>A	ENSP00000423828.3:n.1313-8T>A
ENST00000257430.9:c.1313-8T>A MANE Select	ENSP00000257430.4:n.1313-8T>A
ENST00000257430.8:c.1313-8T>A	ENSP00000257430.4:n.1313-8T>A
ENST00000507379.5:c.1259-8T>A	ENSP00000423224.1:n.1259-8T>A
ENST00000508376.6:c.1313-8T>A	ENSP00000427089.2:n.1313-8T>A
ENST00000508624.5:c.*635-8T>A	ENSP00000424265.1:n.*635-8T>A
ENST00000512211.6:c.1313-8T>A	ENSP00000423828.2:n.1313-8T>A
NM_000038.5:c.1313-8T>A	NP_000029.2:n.1313-8T>A
NM_001127510.2:c.1313-8T>A	NP_001120982.1:n.1313-8T>A
NM_001127511.2:c.1259-8T>A	NP_001120983.2:n.1259-8T>A
NM_001354895.1:c.1313-8T>A	NP_001341824.1:n.1313-8T>A
NM_001354896.1:c.1313-8T>A	NP_001341825.1:n.1313-8T>A
NM_001354897.1:c.1343-8T>A	NP_001341826.1:n.1343-8T>A
NM_001354898.1:c.1238-8T>A	NP_001341827.1:n.1238-8T>A
NM_001354899.1:c.1229-8T>A	NP_001341828.1:n.1229-8T>A
NM_001354900.1:c.1136-8T>A	NP_001341829.1:n.1136-8T>A
NM_001354901.1:c.1136-8T>A	NP_001341830.1:n.1136-8T>A
NM_001354902.1:c.1040-8T>A	NP_001341831.1:n.1040-8T>A
NM_001354903.1:c.1010-8T>A	NP_001341832.1:n.1010-8T>A
NM_001354904.1:c.935-8T>A	NP_001341833.1:n.935-8T>A
NM_001354905.1:c.833-8T>A	NP_001341834.1:n.833-8T>A
NM_001354906.1:c.464-8T>A	NP_001341835.1:n.464-8T>A
NM_000038.6:c.1313-8T>A MANE Select	NP_000029.2:n.1313-8T>A
NM_001127510.3:c.1313-8T>A	NP_001120982.1:n.1313-8T>A
NM_001127511.3:c.1259-8T>A	NP_001120983.2:n.1259-8T>A
NM_001354895.2:c.1313-8T>A	NP_001341824.1:n.1313-8T>A
NM_001354896.2:c.1313-8T>A	NP_001341825.1:n.1313-8T>A
NM_001354897.2:c.1343-8T>A	NP_001341826.1:n.1343-8T>A
NM_001354898.2:c.1238-8T>A	NP_001341827.1:n.1238-8T>A
NM_001354899.2:c.1229-8T>A	NP_001341828.1:n.1229-8T>A
NM_001354900.2:c.1136-8T>A	NP_001341829.1:n.1136-8T>A
NM_001354901.2:c.1136-8T>A	NP_001341830.1:n.1136-8T>A
NM_001354902.2:c.1040-8T>A	NP_001341831.1:n.1040-8T>A
NM_001354903.2:c.1010-8T>A	NP_001341832.1:n.1010-8T>A
NM_001354904.2:c.935-8T>A	NP_001341833.1:n.935-8T>A
NM_001354905.2:c.833-8T>A	NP_001341834.1:n.833-8T>A
NM_001354906.2:c.464-8T>A	NP_001341835.1:n.464-8T>A