Canonical Allele Identifier: CA16032974

Gene: APC

Linked Data

• ClinVar Variation Id: 631456
• ClinVar RCV Id: RCV000777890
• dbSNP Id: rs768168290
• gnomAD v4: 5-112840920-G-C
• MyVariant Identifiers: chr5:g.112176617G>C (hg19) ; chr5:g.112840920G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112840920G>C , CM000667.2:g.112840920G>C	GRCh38
NC_000005.9:g.112176617G>C , CM000667.1:g.112176617G>C	GRCh37
NC_000005.8:g.112204516G>C	NCBI36
NG_008481.4:g.153400G>C , LRG_130:g.153400G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.5380G>C	ENSP00000473355.2:p.Val1794Leu
ENST00000505350.2:c.*5332G>C	ENSP00000481752.1:n.*5332G>C
ENST00000507379.6:c.5272G>C	ENSP00000423224.2:p.Val1758Leu
ENST00000509732.6:c.5326G>C	ENSP00000426541.2:p.Val1776Leu
ENST00000512211.7:c.5326G>C	ENSP00000423828.3:p.Val1776Leu
ENST00000257430.9:c.5326G>C MANE Select	ENSP00000257430.4:p.Val1776Leu
ENST00000257430.8:c.5326G>C	ENSP00000257430.4:p.Val1776Leu
ENST00000508376.6:c.5326G>C	ENSP00000427089.2:p.Val1776Leu
ENST00000508624.5:c.*4648G>C	ENSP00000424265.1:n.*4648G>C
ENST00000520401.1:c.230+11948G>C
NM_000038.5:c.5326G>C	NP_000029.2:p.Val1776Leu
NM_001127510.2:c.5326G>C	NP_001120982.1:p.Val1776Leu
NM_001127511.2:c.5272G>C	NP_001120983.2:p.Val1758Leu
NM_001354895.1:c.5326G>C	NP_001341824.1:p.Val1776Leu
NM_001354896.1:c.5380G>C	NP_001341825.1:p.Val1794Leu
NM_001354897.1:c.5356G>C	NP_001341826.1:p.Val1786Leu
NM_001354898.1:c.5251G>C	NP_001341827.1:p.Val1751Leu
NM_001354899.1:c.5242G>C	NP_001341828.1:p.Val1748Leu
NM_001354900.1:c.5203G>C	NP_001341829.1:p.Val1735Leu
NM_001354901.1:c.5149G>C	NP_001341830.1:p.Val1717Leu
NM_001354902.1:c.5053G>C	NP_001341831.1:p.Val1685Leu
NM_001354903.1:c.5023G>C	NP_001341832.1:p.Val1675Leu
NM_001354904.1:c.4948G>C	NP_001341833.1:p.Val1650Leu
NM_001354905.1:c.4846G>C	NP_001341834.1:p.Val1616Leu
NM_001354906.1:c.4477G>C	NP_001341835.1:p.Val1493Leu
NM_000038.6:c.5326G>C MANE Select	NP_000029.2:p.Val1776Leu
NM_001127510.3:c.5326G>C	NP_001120982.1:p.Val1776Leu
NM_001127511.3:c.5272G>C	NP_001120983.2:p.Val1758Leu
NM_001354895.2:c.5326G>C	NP_001341824.1:p.Val1776Leu
NM_001354896.2:c.5380G>C	NP_001341825.1:p.Val1794Leu
NM_001354897.2:c.5356G>C	NP_001341826.1:p.Val1786Leu
NM_001354898.2:c.5251G>C	NP_001341827.1:p.Val1751Leu
NM_001354899.2:c.5242G>C	NP_001341828.1:p.Val1748Leu
NM_001354900.2:c.5203G>C	NP_001341829.1:p.Val1735Leu
NM_001354901.2:c.5149G>C	NP_001341830.1:p.Val1717Leu
NM_001354902.2:c.5053G>C	NP_001341831.1:p.Val1685Leu
NM_001354903.2:c.5023G>C	NP_001341832.1:p.Val1675Leu
NM_001354904.2:c.4948G>C	NP_001341833.1:p.Val1650Leu
NM_001354905.2:c.4846G>C	NP_001341834.1:p.Val1616Leu
NM_001354906.2:c.4477G>C	NP_001341835.1:p.Val1493Leu