Canonical Allele Identifier: CA446209548

Gene: APC

Linked Data

• ClinVar Variation Id: 2452765
• ClinVar RCV Id: RCV003177539 ; RCV004247807
• dbSNP Id: rs1161046076
• gnomAD v2: 5-112176355-T-C
• MyVariant Identifiers: chr5:g.112176355T>C (hg19) ; chr5:g.112840658T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112840658T>C , CM000667.2:g.112840658T>C	GRCh38
NC_000005.9:g.112176355T>C , CM000667.1:g.112176355T>C	GRCh37
NC_000005.8:g.112204254T>C	NCBI36
NG_008481.4:g.153138T>C , LRG_130:g.153138T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.5118T>C	ENSP00000473355.2:p.Asp1706=
ENST00000505350.2:c.*5070T>C	ENSP00000481752.1:n.*5070T>C
ENST00000507379.6:c.5010T>C	ENSP00000423224.2:p.Asp1670=
ENST00000509732.6:c.5064T>C	ENSP00000426541.2:p.Asp1688=
ENST00000512211.7:c.5064T>C	ENSP00000423828.3:p.Asp1688=
ENST00000257430.9:c.5064T>C MANE Select	ENSP00000257430.4:p.Asp1688=
ENST00000257430.8:c.5064T>C	ENSP00000257430.4:p.Asp1688=
ENST00000508376.6:c.5064T>C	ENSP00000427089.2:p.Asp1688=
ENST00000508624.5:c.*4386T>C	ENSP00000424265.1:n.*4386T>C
ENST00000520401.1:c.230+11686T>C
NM_000038.5:c.5064T>C	NP_000029.2:p.Asp1688=
NM_001127510.2:c.5064T>C	NP_001120982.1:p.Asp1688=
NM_001127511.2:c.5010T>C	NP_001120983.2:p.Asp1670=
NM_001354895.1:c.5064T>C	NP_001341824.1:p.Asp1688=
NM_001354896.1:c.5118T>C	NP_001341825.1:p.Asp1706=
NM_001354897.1:c.5094T>C	NP_001341826.1:p.Asp1698=
NM_001354898.1:c.4989T>C	NP_001341827.1:p.Asp1663=
NM_001354899.1:c.4980T>C	NP_001341828.1:p.Asp1660=
NM_001354900.1:c.4941T>C	NP_001341829.1:p.Asp1647=
NM_001354901.1:c.4887T>C	NP_001341830.1:p.Asp1629=
NM_001354902.1:c.4791T>C	NP_001341831.1:p.Asp1597=
NM_001354903.1:c.4761T>C	NP_001341832.1:p.Asp1587=
NM_001354904.1:c.4686T>C	NP_001341833.1:p.Asp1562=
NM_001354905.1:c.4584T>C	NP_001341834.1:p.Asp1528=
NM_001354906.1:c.4215T>C	NP_001341835.1:p.Asp1405=
NM_000038.6:c.5064T>C MANE Select	NP_000029.2:p.Asp1688=
NM_001127510.3:c.5064T>C	NP_001120982.1:p.Asp1688=
NM_001127511.3:c.5010T>C	NP_001120983.2:p.Asp1670=
NM_001354895.2:c.5064T>C	NP_001341824.1:p.Asp1688=
NM_001354896.2:c.5118T>C	NP_001341825.1:p.Asp1706=
NM_001354897.2:c.5094T>C	NP_001341826.1:p.Asp1698=
NM_001354898.2:c.4989T>C	NP_001341827.1:p.Asp1663=
NM_001354899.2:c.4980T>C	NP_001341828.1:p.Asp1660=
NM_001354900.2:c.4941T>C	NP_001341829.1:p.Asp1647=
NM_001354901.2:c.4887T>C	NP_001341830.1:p.Asp1629=
NM_001354902.2:c.4791T>C	NP_001341831.1:p.Asp1597=
NM_001354903.2:c.4761T>C	NP_001341832.1:p.Asp1587=
NM_001354904.2:c.4686T>C	NP_001341833.1:p.Asp1562=
NM_001354905.2:c.4584T>C	NP_001341834.1:p.Asp1528=
NM_001354906.2:c.4215T>C	NP_001341835.1:p.Asp1405=