Canonical Allele Identifier: CA16025125

Gene: APC

Linked Data

• ClinVar Variation Id: 1779244
• ClinVar RCV Id: RCV002401443
• MyVariant Identifiers: chr5:g.112164669G>T (hg19) ; chr5:g.112828972G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112828972G>T , CM000667.2:g.112828972G>T	GRCh38
NC_000005.9:g.112164669G>T , CM000667.1:g.112164669G>T	GRCh37
NC_000005.8:g.112192568G>T	NCBI36
NG_008481.4:g.141452G>T , LRG_130:g.141452G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502371.3:c.1409-5979G>T	ENSP00000484935.2:n.1409-5979G>T
ENST00000504915.3:c.1797G>T	ENSP00000473355.2:p.Lys599Asn
ENST00000505084.2:n.1799G>T
ENST00000505350.2:c.*1749G>T	ENSP00000481752.1:n.*1749G>T
ENST00000507379.6:c.1689G>T	ENSP00000423224.2:p.Lys563Asn
ENST00000509732.6:c.1743G>T	ENSP00000426541.2:p.Lys581Asn
ENST00000512211.7:c.1743G>T	ENSP00000423828.3:p.Lys581Asn
ENST00000257430.9:c.1743G>T MANE Select	ENSP00000257430.4:p.Lys581Asn
ENST00000257430.8:c.1743G>T	ENSP00000257430.4:p.Lys581Asn
ENST00000502371.2:c.97-5979G>T
ENST00000504915.2:c.432G>T	ENSP00000473355.1:p.Lys144Asn
ENST00000505084.1:n.230G>T
ENST00000507379.5:c.1689G>T	ENSP00000423224.1:p.Lys563Asn
ENST00000508376.6:c.1743G>T	ENSP00000427089.2:p.Lys581Asn
ENST00000508624.5:c.*1065G>T	ENSP00000424265.1:n.*1065G>T
ENST00000512211.6:c.1743G>T	ENSP00000423828.2:p.Lys581Asn
ENST00000520401.1:c.230G>T
NM_000038.5:c.1743G>T	NP_000029.2:p.Lys581Asn
NM_001127510.2:c.1743G>T	NP_001120982.1:p.Lys581Asn
NM_001127511.2:c.1689G>T	NP_001120983.2:p.Lys563Asn
NM_001354895.1:c.1743G>T	NP_001341824.1:p.Lys581Asn
NM_001354896.1:c.1797G>T	NP_001341825.1:p.Lys599Asn
NM_001354897.1:c.1773G>T	NP_001341826.1:p.Lys591Asn
NM_001354898.1:c.1668G>T	NP_001341827.1:p.Lys556Asn
NM_001354899.1:c.1659G>T	NP_001341828.1:p.Lys553Asn
NM_001354900.1:c.1620G>T	NP_001341829.1:p.Lys540Asn
NM_001354901.1:c.1566G>T	NP_001341830.1:p.Lys522Asn
NM_001354902.1:c.1470G>T	NP_001341831.1:p.Lys490Asn
NM_001354903.1:c.1440G>T	NP_001341832.1:p.Lys480Asn
NM_001354904.1:c.1365G>T	NP_001341833.1:p.Lys455Asn
NM_001354905.1:c.1263G>T	NP_001341834.1:p.Lys421Asn
NM_001354906.1:c.894G>T	NP_001341835.1:p.Lys298Asn
NM_000038.6:c.1743G>T MANE Select	NP_000029.2:p.Lys581Asn
NM_001127510.3:c.1743G>T	NP_001120982.1:p.Lys581Asn
NM_001127511.3:c.1689G>T	NP_001120983.2:p.Lys563Asn
NM_001354895.2:c.1743G>T	NP_001341824.1:p.Lys581Asn
NM_001354896.2:c.1797G>T	NP_001341825.1:p.Lys599Asn
NM_001354897.2:c.1773G>T	NP_001341826.1:p.Lys591Asn
NM_001354898.2:c.1668G>T	NP_001341827.1:p.Lys556Asn
NM_001354899.2:c.1659G>T	NP_001341828.1:p.Lys553Asn
NM_001354900.2:c.1620G>T	NP_001341829.1:p.Lys540Asn
NM_001354901.2:c.1566G>T	NP_001341830.1:p.Lys522Asn
NM_001354902.2:c.1470G>T	NP_001341831.1:p.Lys490Asn
NM_001354903.2:c.1440G>T	NP_001341832.1:p.Lys480Asn
NM_001354904.2:c.1365G>T	NP_001341833.1:p.Lys455Asn
NM_001354905.2:c.1263G>T	NP_001341834.1:p.Lys421Asn
NM_001354906.2:c.894G>T	NP_001341835.1:p.Lys298Asn