Canonical Allele Identifier: CA561905577

Gene: APC

Linked Data

• dbSNP Id: rs1456236196
• gnomAD v2: 5-112170109-T-C
• gnomAD v3: 5-112834412-T-C
• gnomAD v4: 5-112834412-T-C
• MyVariant Identifiers: chr5:g.112170109T>C (hg19) ; chr5:g.112834412T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112834412T>C , CM000667.2:g.112834412T>C	GRCh38
NC_000005.9:g.112170109T>C , CM000667.1:g.112170109T>C	GRCh37
NC_000005.8:g.112198008T>C	NCBI36
NG_008481.4:g.146892T>C , LRG_130:g.146892T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000502371.3:c.1409-539T>C	ENSP00000484935.2:n.1409-539T>C
ENST00000504915.3:c.1798-539T>C	ENSP00000473355.2:n.1798-539T>C
ENST00000505350.2:c.*1750-539T>C	ENSP00000481752.1:n.*1750-539T>C
ENST00000507379.6:c.1690-539T>C	ENSP00000423224.2:n.1690-539T>C
ENST00000509732.6:c.1744-539T>C	ENSP00000426541.2:n.1744-539T>C
ENST00000512211.7:c.1744-539T>C	ENSP00000423828.3:n.1744-539T>C
ENST00000257430.9:c.1744-539T>C MANE Select	ENSP00000257430.4:n.1744-539T>C
ENST00000257430.8:c.1744-539T>C	ENSP00000257430.4:n.1744-539T>C
ENST00000502371.2:c.97-539T>C
ENST00000504915.2:c.433-539T>C	ENSP00000473355.1:n.433-539T>C
ENST00000507379.5:c.1690-539T>C	ENSP00000423224.1:n.1690-539T>C
ENST00000508376.6:c.1744-539T>C	ENSP00000427089.2:n.1744-539T>C
ENST00000508624.5:c.*1066-539T>C	ENSP00000424265.1:n.*1066-539T>C
ENST00000512211.6:c.1744-539T>C	ENSP00000423828.2:n.1744-539T>C
ENST00000520401.1:c.230+5440T>C
NM_000038.5:c.1744-539T>C	NP_000029.2:n.1744-539T>C
NM_001127510.2:c.1744-539T>C	NP_001120982.1:n.1744-539T>C
NM_001127511.2:c.1690-539T>C	NP_001120983.2:n.1690-539T>C
NM_001354895.1:c.1744-539T>C	NP_001341824.1:n.1744-539T>C
NM_001354896.1:c.1798-539T>C	NP_001341825.1:n.1798-539T>C
NM_001354897.1:c.1774-539T>C	NP_001341826.1:n.1774-539T>C
NM_001354898.1:c.1669-539T>C	NP_001341827.1:n.1669-539T>C
NM_001354899.1:c.1660-539T>C	NP_001341828.1:n.1660-539T>C
NM_001354900.1:c.1621-539T>C	NP_001341829.1:n.1621-539T>C
NM_001354901.1:c.1567-539T>C	NP_001341830.1:n.1567-539T>C
NM_001354902.1:c.1471-539T>C	NP_001341831.1:n.1471-539T>C
NM_001354903.1:c.1441-539T>C	NP_001341832.1:n.1441-539T>C
NM_001354904.1:c.1366-539T>C	NP_001341833.1:n.1366-539T>C
NM_001354905.1:c.1264-539T>C	NP_001341834.1:n.1264-539T>C
NM_001354906.1:c.895-539T>C	NP_001341835.1:n.895-539T>C
NM_000038.6:c.1744-539T>C MANE Select	NP_000029.2:n.1744-539T>C
NM_001127510.3:c.1744-539T>C	NP_001120982.1:n.1744-539T>C
NM_001127511.3:c.1690-539T>C	NP_001120983.2:n.1690-539T>C
NM_001354895.2:c.1744-539T>C	NP_001341824.1:n.1744-539T>C
NM_001354896.2:c.1798-539T>C	NP_001341825.1:n.1798-539T>C
NM_001354897.2:c.1774-539T>C	NP_001341826.1:n.1774-539T>C
NM_001354898.2:c.1669-539T>C	NP_001341827.1:n.1669-539T>C
NM_001354899.2:c.1660-539T>C	NP_001341828.1:n.1660-539T>C
NM_001354900.2:c.1621-539T>C	NP_001341829.1:n.1621-539T>C
NM_001354901.2:c.1567-539T>C	NP_001341830.1:n.1567-539T>C
NM_001354902.2:c.1471-539T>C	NP_001341831.1:n.1471-539T>C
NM_001354903.2:c.1441-539T>C	NP_001341832.1:n.1441-539T>C
NM_001354904.2:c.1366-539T>C	NP_001341833.1:n.1366-539T>C
NM_001354905.2:c.1264-539T>C	NP_001341834.1:n.1264-539T>C
NM_001354906.2:c.895-539T>C	NP_001341835.1:n.895-539T>C