Canonical Allele Identifier: CA16024957

Gene: APC

Linked Data

• COSMIC: COSM293804
• MyVariant Identifiers: chr5:g.112164596T>C (hg19) ; chr5:g.112828899T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112828899T>C , CM000667.2:g.112828899T>C	GRCh38
NC_000005.9:g.112164596T>C , CM000667.1:g.112164596T>C	GRCh37
NC_000005.8:g.112192495T>C	NCBI36
NG_008481.4:g.141379T>C , LRG_130:g.141379T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502371.3:c.1409-6052T>C	ENSP00000484935.2:n.1409-6052T>C
ENST00000504915.3:c.1724T>C	ENSP00000473355.2:p.Val575Ala
ENST00000505084.2:n.1726T>C
ENST00000505350.2:c.*1676T>C	ENSP00000481752.1:n.*1676T>C
ENST00000507379.6:c.1616T>C	ENSP00000423224.2:p.Val539Ala
ENST00000509732.6:c.1670T>C	ENSP00000426541.2:p.Val557Ala
ENST00000512211.7:c.1670T>C	ENSP00000423828.3:p.Val557Ala
ENST00000257430.9:c.1670T>C MANE Select	ENSP00000257430.4:p.Val557Ala
ENST00000257430.8:c.1670T>C	ENSP00000257430.4:p.Val557Ala
ENST00000502371.2:c.97-6052T>C
ENST00000504915.2:c.359T>C	ENSP00000473355.1:p.Val120Ala
ENST00000505084.1:n.157T>C
ENST00000507379.5:c.1616T>C	ENSP00000423224.1:p.Val539Ala
ENST00000508376.6:c.1670T>C	ENSP00000427089.2:p.Val557Ala
ENST00000508624.5:c.*992T>C	ENSP00000424265.1:n.*992T>C
ENST00000512211.6:c.1670T>C	ENSP00000423828.2:p.Val557Ala
ENST00000520401.1:c.157T>C
NM_000038.5:c.1670T>C	NP_000029.2:p.Val557Ala
NM_001127510.2:c.1670T>C	NP_001120982.1:p.Val557Ala
NM_001127511.2:c.1616T>C	NP_001120983.2:p.Val539Ala
NM_001354895.1:c.1670T>C	NP_001341824.1:p.Val557Ala
NM_001354896.1:c.1724T>C	NP_001341825.1:p.Val575Ala
NM_001354897.1:c.1700T>C	NP_001341826.1:p.Val567Ala
NM_001354898.1:c.1595T>C	NP_001341827.1:p.Val532Ala
NM_001354899.1:c.1586T>C	NP_001341828.1:p.Val529Ala
NM_001354900.1:c.1547T>C	NP_001341829.1:p.Val516Ala
NM_001354901.1:c.1493T>C	NP_001341830.1:p.Val498Ala
NM_001354902.1:c.1397T>C	NP_001341831.1:p.Val466Ala
NM_001354903.1:c.1367T>C	NP_001341832.1:p.Val456Ala
NM_001354904.1:c.1292T>C	NP_001341833.1:p.Val431Ala
NM_001354905.1:c.1190T>C	NP_001341834.1:p.Val397Ala
NM_001354906.1:c.821T>C	NP_001341835.1:p.Val274Ala
NM_000038.6:c.1670T>C MANE Select	NP_000029.2:p.Val557Ala
NM_001127510.3:c.1670T>C	NP_001120982.1:p.Val557Ala
NM_001127511.3:c.1616T>C	NP_001120983.2:p.Val539Ala
NM_001354895.2:c.1670T>C	NP_001341824.1:p.Val557Ala
NM_001354896.2:c.1724T>C	NP_001341825.1:p.Val575Ala
NM_001354897.2:c.1700T>C	NP_001341826.1:p.Val567Ala
NM_001354898.2:c.1595T>C	NP_001341827.1:p.Val532Ala
NM_001354899.2:c.1586T>C	NP_001341828.1:p.Val529Ala
NM_001354900.2:c.1547T>C	NP_001341829.1:p.Val516Ala
NM_001354901.2:c.1493T>C	NP_001341830.1:p.Val498Ala
NM_001354902.2:c.1397T>C	NP_001341831.1:p.Val466Ala
NM_001354903.2:c.1367T>C	NP_001341832.1:p.Val456Ala
NM_001354904.2:c.1292T>C	NP_001341833.1:p.Val431Ala
NM_001354905.2:c.1190T>C	NP_001341834.1:p.Val397Ala
NM_001354906.2:c.821T>C	NP_001341835.1:p.Val274Ala