Canonical Allele Identifier: CA16031778

Gene: APC

Linked Data

• ClinVar Variation Id: 933161
• ClinVar RCV Id: RCV001201197 ; RCV004033494 ; RCV003650652
• dbSNP Id: rs72541813
• gnomAD v4: 5-112840359-C-A
• MyVariant Identifiers: chr5:g.112176056C>A (hg19) ; chr5:g.112840359C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112840359C>A , CM000667.2:g.112840359C>A	GRCh38
NC_000005.9:g.112176056C>A , CM000667.1:g.112176056C>A	GRCh37
NC_000005.8:g.112203955C>A	NCBI36
NG_008481.4:g.152839C>A , LRG_130:g.152839C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.4819C>A	ENSP00000473355.2:p.Arg1607Ser
ENST00000505350.2:c.*4771C>A	ENSP00000481752.1:n.*4771C>A
ENST00000507379.6:c.4711C>A	ENSP00000423224.2:p.Arg1571Ser
ENST00000509732.6:c.4765C>A	ENSP00000426541.2:p.Arg1589Ser
ENST00000512211.7:c.4765C>A	ENSP00000423828.3:p.Arg1589Ser
ENST00000257430.9:c.4765C>A MANE Select	ENSP00000257430.4:p.Arg1589Ser
ENST00000257430.8:c.4765C>A	ENSP00000257430.4:p.Arg1589Ser
ENST00000508376.6:c.4765C>A	ENSP00000427089.2:p.Arg1589Ser
ENST00000508624.5:c.*4087C>A	ENSP00000424265.1:n.*4087C>A
ENST00000520401.1:c.230+11387C>A
NM_000038.5:c.4765C>A	NP_000029.2:p.Arg1589Ser
NM_001127510.2:c.4765C>A	NP_001120982.1:p.Arg1589Ser
NM_001127511.2:c.4711C>A	NP_001120983.2:p.Arg1571Ser
NM_001354895.1:c.4765C>A	NP_001341824.1:p.Arg1589Ser
NM_001354896.1:c.4819C>A	NP_001341825.1:p.Arg1607Ser
NM_001354897.1:c.4795C>A	NP_001341826.1:p.Arg1599Ser
NM_001354898.1:c.4690C>A	NP_001341827.1:p.Arg1564Ser
NM_001354899.1:c.4681C>A	NP_001341828.1:p.Arg1561Ser
NM_001354900.1:c.4642C>A	NP_001341829.1:p.Arg1548Ser
NM_001354901.1:c.4588C>A	NP_001341830.1:p.Arg1530Ser
NM_001354902.1:c.4492C>A	NP_001341831.1:p.Arg1498Ser
NM_001354903.1:c.4462C>A	NP_001341832.1:p.Arg1488Ser
NM_001354904.1:c.4387C>A	NP_001341833.1:p.Arg1463Ser
NM_001354905.1:c.4285C>A	NP_001341834.1:p.Arg1429Ser
NM_001354906.1:c.3916C>A	NP_001341835.1:p.Arg1306Ser
NM_000038.6:c.4765C>A MANE Select	NP_000029.2:p.Arg1589Ser
NM_001127510.3:c.4765C>A	NP_001120982.1:p.Arg1589Ser
NM_001127511.3:c.4711C>A	NP_001120983.2:p.Arg1571Ser
NM_001354895.2:c.4765C>A	NP_001341824.1:p.Arg1589Ser
NM_001354896.2:c.4819C>A	NP_001341825.1:p.Arg1607Ser
NM_001354897.2:c.4795C>A	NP_001341826.1:p.Arg1599Ser
NM_001354898.2:c.4690C>A	NP_001341827.1:p.Arg1564Ser
NM_001354899.2:c.4681C>A	NP_001341828.1:p.Arg1561Ser
NM_001354900.2:c.4642C>A	NP_001341829.1:p.Arg1548Ser
NM_001354901.2:c.4588C>A	NP_001341830.1:p.Arg1530Ser
NM_001354902.2:c.4492C>A	NP_001341831.1:p.Arg1498Ser
NM_001354903.2:c.4462C>A	NP_001341832.1:p.Arg1488Ser
NM_001354904.2:c.4387C>A	NP_001341833.1:p.Arg1463Ser
NM_001354905.2:c.4285C>A	NP_001341834.1:p.Arg1429Ser
NM_001354906.2:c.3916C>A	NP_001341835.1:p.Arg1306Ser