Canonical Allele Identifier: CA16032523

Gene: APC

Linked Data

• ClinVar Variation Id: 825464
• ClinVar RCV Id: RCV001023577 ; RCV003537414 ; RCV004004637
• dbSNP Id: rs1580656459
• MyVariant Identifiers: chr5:g.112176411C>T (hg19) ; chr5:g.112840714C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112840714C>T , CM000667.2:g.112840714C>T	GRCh38
NC_000005.9:g.112176411C>T , CM000667.1:g.112176411C>T	GRCh37
NC_000005.8:g.112204310C>T	NCBI36
NG_008481.4:g.153194C>T , LRG_130:g.153194C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.5174C>T	ENSP00000473355.2:p.Ser1725Phe
ENST00000505350.2:c.*5126C>T	ENSP00000481752.1:n.*5126C>T
ENST00000507379.6:c.5066C>T	ENSP00000423224.2:p.Ser1689Phe
ENST00000509732.6:c.5120C>T	ENSP00000426541.2:p.Ser1707Phe
ENST00000512211.7:c.5120C>T	ENSP00000423828.3:p.Ser1707Phe
ENST00000257430.9:c.5120C>T MANE Select	ENSP00000257430.4:p.Ser1707Phe
ENST00000257430.8:c.5120C>T	ENSP00000257430.4:p.Ser1707Phe
ENST00000508376.6:c.5120C>T	ENSP00000427089.2:p.Ser1707Phe
ENST00000508624.5:c.*4442C>T	ENSP00000424265.1:n.*4442C>T
ENST00000520401.1:c.230+11742C>T
NM_000038.5:c.5120C>T	NP_000029.2:p.Ser1707Phe
NM_001127510.2:c.5120C>T	NP_001120982.1:p.Ser1707Phe
NM_001127511.2:c.5066C>T	NP_001120983.2:p.Ser1689Phe
NM_001354895.1:c.5120C>T	NP_001341824.1:p.Ser1707Phe
NM_001354896.1:c.5174C>T	NP_001341825.1:p.Ser1725Phe
NM_001354897.1:c.5150C>T	NP_001341826.1:p.Ser1717Phe
NM_001354898.1:c.5045C>T	NP_001341827.1:p.Ser1682Phe
NM_001354899.1:c.5036C>T	NP_001341828.1:p.Ser1679Phe
NM_001354900.1:c.4997C>T	NP_001341829.1:p.Ser1666Phe
NM_001354901.1:c.4943C>T	NP_001341830.1:p.Ser1648Phe
NM_001354902.1:c.4847C>T	NP_001341831.1:p.Ser1616Phe
NM_001354903.1:c.4817C>T	NP_001341832.1:p.Ser1606Phe
NM_001354904.1:c.4742C>T	NP_001341833.1:p.Ser1581Phe
NM_001354905.1:c.4640C>T	NP_001341834.1:p.Ser1547Phe
NM_001354906.1:c.4271C>T	NP_001341835.1:p.Ser1424Phe
NM_000038.6:c.5120C>T MANE Select	NP_000029.2:p.Ser1707Phe
NM_001127510.3:c.5120C>T	NP_001120982.1:p.Ser1707Phe
NM_001127511.3:c.5066C>T	NP_001120983.2:p.Ser1689Phe
NM_001354895.2:c.5120C>T	NP_001341824.1:p.Ser1707Phe
NM_001354896.2:c.5174C>T	NP_001341825.1:p.Ser1725Phe
NM_001354897.2:c.5150C>T	NP_001341826.1:p.Ser1717Phe
NM_001354898.2:c.5045C>T	NP_001341827.1:p.Ser1682Phe
NM_001354899.2:c.5036C>T	NP_001341828.1:p.Ser1679Phe
NM_001354900.2:c.4997C>T	NP_001341829.1:p.Ser1666Phe
NM_001354901.2:c.4943C>T	NP_001341830.1:p.Ser1648Phe
NM_001354902.2:c.4847C>T	NP_001341831.1:p.Ser1616Phe
NM_001354903.2:c.4817C>T	NP_001341832.1:p.Ser1606Phe
NM_001354904.2:c.4742C>T	NP_001341833.1:p.Ser1581Phe
NM_001354905.2:c.4640C>T	NP_001341834.1:p.Ser1547Phe
NM_001354906.2:c.4271C>T	NP_001341835.1:p.Ser1424Phe