Canonical Allele Identifier: CA16029952

Gene: APC

Linked Data

• MyVariant Identifiers: chr5:g.112175219A>C (hg19) ; chr5:g.112839522A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112839522A>C , CM000667.2:g.112839522A>C	GRCh38
NC_000005.9:g.112175219A>C , CM000667.1:g.112175219A>C	GRCh37
NC_000005.8:g.112203118A>C	NCBI36
NG_008481.4:g.152002A>C , LRG_130:g.152002A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000502371.3:c.3593A>C	ENSP00000484935.2:n.3593A>C
ENST00000504915.3:c.3982A>C	ENSP00000473355.2:p.Lys1328Gln
ENST00000505350.2:c.*3934A>C	ENSP00000481752.1:n.*3934A>C
ENST00000507379.6:c.3874A>C	ENSP00000423224.2:p.Lys1292Gln
ENST00000509732.6:c.3928A>C	ENSP00000426541.2:p.Lys1310Gln
ENST00000512211.7:c.3928A>C	ENSP00000423828.3:p.Lys1310Gln
ENST00000257430.9:c.3928A>C MANE Select	ENSP00000257430.4:p.Lys1310Gln
ENST00000257430.8:c.3928A>C	ENSP00000257430.4:p.Lys1310Gln
ENST00000502371.2:c.2281A>C
ENST00000508376.6:c.3928A>C	ENSP00000427089.2:p.Lys1310Gln
ENST00000508624.5:c.*3250A>C	ENSP00000424265.1:n.*3250A>C
ENST00000520401.1:c.230+10550A>C
NM_000038.5:c.3928A>C	NP_000029.2:p.Lys1310Gln
NM_001127510.2:c.3928A>C	NP_001120982.1:p.Lys1310Gln
NM_001127511.2:c.3874A>C	NP_001120983.2:p.Lys1292Gln
NM_001354895.1:c.3928A>C	NP_001341824.1:p.Lys1310Gln
NM_001354896.1:c.3982A>C	NP_001341825.1:p.Lys1328Gln
NM_001354897.1:c.3958A>C	NP_001341826.1:p.Lys1320Gln
NM_001354898.1:c.3853A>C	NP_001341827.1:p.Lys1285Gln
NM_001354899.1:c.3844A>C	NP_001341828.1:p.Lys1282Gln
NM_001354900.1:c.3805A>C	NP_001341829.1:p.Lys1269Gln
NM_001354901.1:c.3751A>C	NP_001341830.1:p.Lys1251Gln
NM_001354902.1:c.3655A>C	NP_001341831.1:p.Lys1219Gln
NM_001354903.1:c.3625A>C	NP_001341832.1:p.Lys1209Gln
NM_001354904.1:c.3550A>C	NP_001341833.1:p.Lys1184Gln
NM_001354905.1:c.3448A>C	NP_001341834.1:p.Lys1150Gln
NM_001354906.1:c.3079A>C	NP_001341835.1:p.Lys1027Gln
NM_000038.6:c.3928A>C MANE Select	NP_000029.2:p.Lys1310Gln
NM_001127510.3:c.3928A>C	NP_001120982.1:p.Lys1310Gln
NM_001127511.3:c.3874A>C	NP_001120983.2:p.Lys1292Gln
NM_001354895.2:c.3928A>C	NP_001341824.1:p.Lys1310Gln
NM_001354896.2:c.3982A>C	NP_001341825.1:p.Lys1328Gln
NM_001354897.2:c.3958A>C	NP_001341826.1:p.Lys1320Gln
NM_001354898.2:c.3853A>C	NP_001341827.1:p.Lys1285Gln
NM_001354899.2:c.3844A>C	NP_001341828.1:p.Lys1282Gln
NM_001354900.2:c.3805A>C	NP_001341829.1:p.Lys1269Gln
NM_001354901.2:c.3751A>C	NP_001341830.1:p.Lys1251Gln
NM_001354902.2:c.3655A>C	NP_001341831.1:p.Lys1219Gln
NM_001354903.2:c.3625A>C	NP_001341832.1:p.Lys1209Gln
NM_001354904.2:c.3550A>C	NP_001341833.1:p.Lys1184Gln
NM_001354905.2:c.3448A>C	NP_001341834.1:p.Lys1150Gln
NM_001354906.2:c.3079A>C	NP_001341835.1:p.Lys1027Gln