Canonical Allele Identifier: CA445757410

Gene: APC

Linked Data

• ClinVar Variation Id: 3148738
• ClinVar RCV Id: RCV004442632
• dbSNP Id: rs2149817756
• MyVariant Identifiers: chr5:g.112164624T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112828927T>C , CM000667.2:g.112828927T>C	GRCh38
NC_000005.9:g.112164624T>C , CM000667.1:g.112164624T>C	GRCh37
NC_000005.8:g.112192523T>C	NCBI36
NG_008481.4:g.141407T>C , LRG_130:g.141407T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502371.3:c.1409-6024T>C	ENSP00000484935.2:n.1409-6024T>C
ENST00000504915.3:c.1752T>C	ENSP00000473355.2:p.Val584=
ENST00000505084.2:n.1754T>C
ENST00000505350.2:c.*1704T>C	ENSP00000481752.1:n.*1704T>C
ENST00000507379.6:c.1644T>C	ENSP00000423224.2:p.Val548=
ENST00000509732.6:c.1698T>C	ENSP00000426541.2:p.Val566=
ENST00000512211.7:c.1698T>C	ENSP00000423828.3:p.Val566=
ENST00000257430.9:c.1698T>C MANE Select	ENSP00000257430.4:p.Val566=
ENST00000257430.8:c.1698T>C	ENSP00000257430.4:p.Val566=
ENST00000502371.2:c.97-6024T>C
ENST00000504915.2:c.387T>C	ENSP00000473355.1:p.Val129=
ENST00000505084.1:n.185T>C
ENST00000507379.5:c.1644T>C	ENSP00000423224.1:p.Val548=
ENST00000508376.6:c.1698T>C	ENSP00000427089.2:p.Val566=
ENST00000508624.5:c.*1020T>C	ENSP00000424265.1:n.*1020T>C
ENST00000512211.6:c.1698T>C	ENSP00000423828.2:p.Val566=
ENST00000520401.1:c.185T>C
NM_000038.5:c.1698T>C	NP_000029.2:p.Val566=
NM_001127510.2:c.1698T>C	NP_001120982.1:p.Val566=
NM_001127511.2:c.1644T>C	NP_001120983.2:p.Val548=
NM_001354895.1:c.1698T>C	NP_001341824.1:p.Val566=
NM_001354896.1:c.1752T>C	NP_001341825.1:p.Val584=
NM_001354897.1:c.1728T>C	NP_001341826.1:p.Val576=
NM_001354898.1:c.1623T>C	NP_001341827.1:p.Val541=
NM_001354899.1:c.1614T>C	NP_001341828.1:p.Val538=
NM_001354900.1:c.1575T>C	NP_001341829.1:p.Val525=
NM_001354901.1:c.1521T>C	NP_001341830.1:p.Val507=
NM_001354902.1:c.1425T>C	NP_001341831.1:p.Val475=
NM_001354903.1:c.1395T>C	NP_001341832.1:p.Val465=
NM_001354904.1:c.1320T>C	NP_001341833.1:p.Val440=
NM_001354905.1:c.1218T>C	NP_001341834.1:p.Val406=
NM_001354906.1:c.849T>C	NP_001341835.1:p.Val283=
NM_000038.6:c.1698T>C MANE Select	NP_000029.2:p.Val566=
NM_001127510.3:c.1698T>C	NP_001120982.1:p.Val566=
NM_001127511.3:c.1644T>C	NP_001120983.2:p.Val548=
NM_001354895.2:c.1698T>C	NP_001341824.1:p.Val566=
NM_001354896.2:c.1752T>C	NP_001341825.1:p.Val584=
NM_001354897.2:c.1728T>C	NP_001341826.1:p.Val576=
NM_001354898.2:c.1623T>C	NP_001341827.1:p.Val541=
NM_001354899.2:c.1614T>C	NP_001341828.1:p.Val538=
NM_001354900.2:c.1575T>C	NP_001341829.1:p.Val525=
NM_001354901.2:c.1521T>C	NP_001341830.1:p.Val507=
NM_001354902.2:c.1425T>C	NP_001341831.1:p.Val475=
NM_001354903.2:c.1395T>C	NP_001341832.1:p.Val465=
NM_001354904.2:c.1320T>C	NP_001341833.1:p.Val440=
NM_001354905.2:c.1218T>C	NP_001341834.1:p.Val406=
NM_001354906.2:c.849T>C	NP_001341835.1:p.Val283=