Canonical Allele Identifier: CA2602933812

Gene: APC

Linked Data

• dbSNP Id: rs2149838944
• gnomAD v3: 5-112834430-A-G
• gnomAD v4: 5-112834430-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112834430A>G , CM000667.2:g.112834430A>G	GRCh38
NC_000005.9:g.112170127A>G , CM000667.1:g.112170127A>G	GRCh37
NC_000005.8:g.112198026A>G	NCBI36
NG_008481.4:g.146910A>G , LRG_130:g.146910A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502371.3:c.1409-521A>G	ENSP00000484935.2:n.1409-521A>G
ENST00000504915.3:c.1798-521A>G	ENSP00000473355.2:n.1798-521A>G
ENST00000505350.2:c.*1750-521A>G	ENSP00000481752.1:n.*1750-521A>G
ENST00000507379.6:c.1690-521A>G	ENSP00000423224.2:n.1690-521A>G
ENST00000509732.6:c.1744-521A>G	ENSP00000426541.2:n.1744-521A>G
ENST00000512211.7:c.1744-521A>G	ENSP00000423828.3:n.1744-521A>G
ENST00000257430.9:c.1744-521A>G MANE Select	ENSP00000257430.4:n.1744-521A>G
ENST00000257430.8:c.1744-521A>G	ENSP00000257430.4:n.1744-521A>G
ENST00000502371.2:c.97-521A>G
ENST00000504915.2:c.433-521A>G	ENSP00000473355.1:n.433-521A>G
ENST00000507379.5:c.1690-521A>G	ENSP00000423224.1:n.1690-521A>G
ENST00000508376.6:c.1744-521A>G	ENSP00000427089.2:n.1744-521A>G
ENST00000508624.5:c.*1066-521A>G	ENSP00000424265.1:n.*1066-521A>G
ENST00000512211.6:c.1744-521A>G	ENSP00000423828.2:n.1744-521A>G
ENST00000520401.1:c.230+5458A>G
NM_000038.5:c.1744-521A>G	NP_000029.2:n.1744-521A>G
NM_001127510.2:c.1744-521A>G	NP_001120982.1:n.1744-521A>G
NM_001127511.2:c.1690-521A>G	NP_001120983.2:n.1690-521A>G
NM_001354895.1:c.1744-521A>G	NP_001341824.1:n.1744-521A>G
NM_001354896.1:c.1798-521A>G	NP_001341825.1:n.1798-521A>G
NM_001354897.1:c.1774-521A>G	NP_001341826.1:n.1774-521A>G
NM_001354898.1:c.1669-521A>G	NP_001341827.1:n.1669-521A>G
NM_001354899.1:c.1660-521A>G	NP_001341828.1:n.1660-521A>G
NM_001354900.1:c.1621-521A>G	NP_001341829.1:n.1621-521A>G
NM_001354901.1:c.1567-521A>G	NP_001341830.1:n.1567-521A>G
NM_001354902.1:c.1471-521A>G	NP_001341831.1:n.1471-521A>G
NM_001354903.1:c.1441-521A>G	NP_001341832.1:n.1441-521A>G
NM_001354904.1:c.1366-521A>G	NP_001341833.1:n.1366-521A>G
NM_001354905.1:c.1264-521A>G	NP_001341834.1:n.1264-521A>G
NM_001354906.1:c.895-521A>G	NP_001341835.1:n.895-521A>G
NM_000038.6:c.1744-521A>G MANE Select	NP_000029.2:n.1744-521A>G
NM_001127510.3:c.1744-521A>G	NP_001120982.1:n.1744-521A>G
NM_001127511.3:c.1690-521A>G	NP_001120983.2:n.1690-521A>G
NM_001354895.2:c.1744-521A>G	NP_001341824.1:n.1744-521A>G
NM_001354896.2:c.1798-521A>G	NP_001341825.1:n.1798-521A>G
NM_001354897.2:c.1774-521A>G	NP_001341826.1:n.1774-521A>G
NM_001354898.2:c.1669-521A>G	NP_001341827.1:n.1669-521A>G
NM_001354899.2:c.1660-521A>G	NP_001341828.1:n.1660-521A>G
NM_001354900.2:c.1621-521A>G	NP_001341829.1:n.1621-521A>G
NM_001354901.2:c.1567-521A>G	NP_001341830.1:n.1567-521A>G
NM_001354902.2:c.1471-521A>G	NP_001341831.1:n.1471-521A>G
NM_001354903.2:c.1441-521A>G	NP_001341832.1:n.1441-521A>G
NM_001354904.2:c.1366-521A>G	NP_001341833.1:n.1366-521A>G
NM_001354905.2:c.1264-521A>G	NP_001341834.1:n.1264-521A>G
NM_001354906.2:c.895-521A>G	NP_001341835.1:n.895-521A>G