Canonical Allele Identifier: CA445757388

Gene: APC

Linked Data

• ClinVar Variation Id: 510480
• ClinVar RCV Id: RCV001284233 ; RCV003538400
• dbSNP Id: rs1554082105
• MyVariant Identifiers: chr5:g.112164582T>G (hg19) ; chr5:g.112828885T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112828885T>G , CM000667.2:g.112828885T>G	GRCh38
NC_000005.9:g.112164582T>G , CM000667.1:g.112164582T>G	GRCh37
NC_000005.8:g.112192481T>G	NCBI36
NG_008481.4:g.141365T>G , LRG_130:g.141365T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000502371.3:c.1409-6066T>G	ENSP00000484935.2:n.1409-6066T>G
ENST00000504915.3:c.1710T>G	ENSP00000473355.2:p.Ser570=
ENST00000505084.2:n.1712T>G
ENST00000505350.2:c.*1662T>G	ENSP00000481752.1:n.*1662T>G
ENST00000507379.6:c.1602T>G	ENSP00000423224.2:p.Ser534=
ENST00000509732.6:c.1656T>G	ENSP00000426541.2:p.Ser552=
ENST00000512211.7:c.1656T>G	ENSP00000423828.3:p.Ser552=
ENST00000257430.9:c.1656T>G MANE Select	ENSP00000257430.4:p.Ser552=
ENST00000257430.8:c.1656T>G	ENSP00000257430.4:p.Ser552=
ENST00000502371.2:c.97-6066T>G
ENST00000504915.2:c.345T>G	ENSP00000473355.1:p.Ser115=
ENST00000505084.1:n.143T>G
ENST00000507379.5:c.1602T>G	ENSP00000423224.1:p.Ser534=
ENST00000508376.6:c.1656T>G	ENSP00000427089.2:p.Ser552=
ENST00000508624.5:c.*978T>G	ENSP00000424265.1:n.*978T>G
ENST00000512211.6:c.1656T>G	ENSP00000423828.2:p.Ser552=
ENST00000520401.1:c.143T>G
NM_000038.5:c.1656T>G	NP_000029.2:p.Ser552=
NM_001127510.2:c.1656T>G	NP_001120982.1:p.Ser552=
NM_001127511.2:c.1602T>G	NP_001120983.2:p.Ser534=
NM_001354895.1:c.1656T>G	NP_001341824.1:p.Ser552=
NM_001354896.1:c.1710T>G	NP_001341825.1:p.Ser570=
NM_001354897.1:c.1686T>G	NP_001341826.1:p.Ser562=
NM_001354898.1:c.1581T>G	NP_001341827.1:p.Ser527=
NM_001354899.1:c.1572T>G	NP_001341828.1:p.Ser524=
NM_001354900.1:c.1533T>G	NP_001341829.1:p.Ser511=
NM_001354901.1:c.1479T>G	NP_001341830.1:p.Ser493=
NM_001354902.1:c.1383T>G	NP_001341831.1:p.Ser461=
NM_001354903.1:c.1353T>G	NP_001341832.1:p.Ser451=
NM_001354904.1:c.1278T>G	NP_001341833.1:p.Ser426=
NM_001354905.1:c.1176T>G	NP_001341834.1:p.Ser392=
NM_001354906.1:c.807T>G	NP_001341835.1:p.Ser269=
NM_000038.6:c.1656T>G MANE Select	NP_000029.2:p.Ser552=
NM_001127510.3:c.1656T>G	NP_001120982.1:p.Ser552=
NM_001127511.3:c.1602T>G	NP_001120983.2:p.Ser534=
NM_001354895.2:c.1656T>G	NP_001341824.1:p.Ser552=
NM_001354896.2:c.1710T>G	NP_001341825.1:p.Ser570=
NM_001354897.2:c.1686T>G	NP_001341826.1:p.Ser562=
NM_001354898.2:c.1581T>G	NP_001341827.1:p.Ser527=
NM_001354899.2:c.1572T>G	NP_001341828.1:p.Ser524=
NM_001354900.2:c.1533T>G	NP_001341829.1:p.Ser511=
NM_001354901.2:c.1479T>G	NP_001341830.1:p.Ser493=
NM_001354902.2:c.1383T>G	NP_001341831.1:p.Ser461=
NM_001354903.2:c.1353T>G	NP_001341832.1:p.Ser451=
NM_001354904.2:c.1278T>G	NP_001341833.1:p.Ser426=
NM_001354905.2:c.1176T>G	NP_001341834.1:p.Ser392=
NM_001354906.2:c.807T>G	NP_001341835.1:p.Ser269=