Canonical Allele Identifier: CA16024258

Gene: APC

Linked Data

• ClinVar Variation Id: 961490
• ClinVar RCV Id: RCV001235188
• dbSNP Id: rs764175850
• COSMIC: COSM6475457
• MyVariant Identifiers: chr5:g.112157629T>C (hg19) ; chr5:g.112821932T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112821932T>C , CM000667.2:g.112821932T>C	GRCh38
NC_000005.9:g.112157629T>C , CM000667.1:g.112157629T>C	GRCh37
NC_000005.8:g.112185528T>C	NCBI36
NG_008481.4:g.134412T>C , LRG_130:g.134412T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502371.3:c.1349T>C	ENSP00000484935.2:p.Val450Ala
ENST00000504915.3:c.1349T>C	ENSP00000473355.2:p.Val450Ala
ENST00000505084.2:n.1405T>C
ENST00000505350.2:c.*1355T>C	ENSP00000481752.1:n.*1355T>C
ENST00000507379.6:c.1295T>C	ENSP00000423224.2:p.Val432Ala
ENST00000509732.6:c.1349T>C	ENSP00000426541.2:p.Val450Ala
ENST00000512211.7:c.1349T>C	ENSP00000423828.3:p.Val450Ala
ENST00000257430.9:c.1349T>C MANE Select	ENSP00000257430.4:p.Val450Ala
ENST00000257430.8:c.1349T>C	ENSP00000257430.4:p.Val450Ala
ENST00000502371.2:c.37T>C
ENST00000507379.5:c.1295T>C	ENSP00000423224.1:p.Val432Ala
ENST00000508376.6:c.1349T>C	ENSP00000427089.2:p.Val450Ala
ENST00000508624.5:c.*671T>C	ENSP00000424265.1:n.*671T>C
ENST00000512211.6:c.1349T>C	ENSP00000423828.2:p.Val450Ala
NM_000038.5:c.1349T>C	NP_000029.2:p.Val450Ala
NM_001127510.2:c.1349T>C	NP_001120982.1:p.Val450Ala
NM_001127511.2:c.1295T>C	NP_001120983.2:p.Val432Ala
NM_001354895.1:c.1349T>C	NP_001341824.1:p.Val450Ala
NM_001354896.1:c.1349T>C	NP_001341825.1:p.Val450Ala
NM_001354897.1:c.1379T>C	NP_001341826.1:p.Val460Ala
NM_001354898.1:c.1274T>C	NP_001341827.1:p.Val425Ala
NM_001354899.1:c.1265T>C	NP_001341828.1:p.Val422Ala
NM_001354900.1:c.1172T>C	NP_001341829.1:p.Val391Ala
NM_001354901.1:c.1172T>C	NP_001341830.1:p.Val391Ala
NM_001354902.1:c.1076T>C	NP_001341831.1:p.Val359Ala
NM_001354903.1:c.1046T>C	NP_001341832.1:p.Val349Ala
NM_001354904.1:c.971T>C	NP_001341833.1:p.Val324Ala
NM_001354905.1:c.869T>C	NP_001341834.1:p.Val290Ala
NM_001354906.1:c.500T>C	NP_001341835.1:p.Val167Ala
NM_000038.6:c.1349T>C MANE Select	NP_000029.2:p.Val450Ala
NM_001127510.3:c.1349T>C	NP_001120982.1:p.Val450Ala
NM_001127511.3:c.1295T>C	NP_001120983.2:p.Val432Ala
NM_001354895.2:c.1349T>C	NP_001341824.1:p.Val450Ala
NM_001354896.2:c.1349T>C	NP_001341825.1:p.Val450Ala
NM_001354897.2:c.1379T>C	NP_001341826.1:p.Val460Ala
NM_001354898.2:c.1274T>C	NP_001341827.1:p.Val425Ala
NM_001354899.2:c.1265T>C	NP_001341828.1:p.Val422Ala
NM_001354900.2:c.1172T>C	NP_001341829.1:p.Val391Ala
NM_001354901.2:c.1172T>C	NP_001341830.1:p.Val391Ala
NM_001354902.2:c.1076T>C	NP_001341831.1:p.Val359Ala
NM_001354903.2:c.1046T>C	NP_001341832.1:p.Val349Ala
NM_001354904.2:c.971T>C	NP_001341833.1:p.Val324Ala
NM_001354905.2:c.869T>C	NP_001341834.1:p.Val290Ala
NM_001354906.2:c.500T>C	NP_001341835.1:p.Val167Ala