Canonical Allele Identifier: CA16024282

Gene: APC

Linked Data

• MyVariant Identifiers: chr5:g.112157641T>C (hg19) ; chr5:g.112821944T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112821944T>C , CM000667.2:g.112821944T>C	GRCh38
NC_000005.9:g.112157641T>C , CM000667.1:g.112157641T>C	GRCh37
NC_000005.8:g.112185540T>C	NCBI36
NG_008481.4:g.134424T>C , LRG_130:g.134424T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502371.3:c.1361T>C	ENSP00000484935.2:p.Met454Thr
ENST00000504915.3:c.1361T>C	ENSP00000473355.2:p.Met454Thr
ENST00000505084.2:n.1417T>C
ENST00000505350.2:c.*1367T>C	ENSP00000481752.1:n.*1367T>C
ENST00000507379.6:c.1307T>C	ENSP00000423224.2:p.Met436Thr
ENST00000509732.6:c.1361T>C	ENSP00000426541.2:p.Met454Thr
ENST00000512211.7:c.1361T>C	ENSP00000423828.3:p.Met454Thr
ENST00000257430.9:c.1361T>C MANE Select	ENSP00000257430.4:p.Met454Thr
ENST00000257430.8:c.1361T>C	ENSP00000257430.4:p.Met454Thr
ENST00000502371.2:c.49T>C
ENST00000507379.5:c.1307T>C	ENSP00000423224.1:p.Met436Thr
ENST00000508376.6:c.1361T>C	ENSP00000427089.2:p.Met454Thr
ENST00000508624.5:c.*683T>C	ENSP00000424265.1:n.*683T>C
ENST00000512211.6:c.1361T>C	ENSP00000423828.2:p.Met454Thr
NM_000038.5:c.1361T>C	NP_000029.2:p.Met454Thr
NM_001127510.2:c.1361T>C	NP_001120982.1:p.Met454Thr
NM_001127511.2:c.1307T>C	NP_001120983.2:p.Met436Thr
NM_001354895.1:c.1361T>C	NP_001341824.1:p.Met454Thr
NM_001354896.1:c.1361T>C	NP_001341825.1:p.Met454Thr
NM_001354897.1:c.1391T>C	NP_001341826.1:p.Met464Thr
NM_001354898.1:c.1286T>C	NP_001341827.1:p.Met429Thr
NM_001354899.1:c.1277T>C	NP_001341828.1:p.Met426Thr
NM_001354900.1:c.1184T>C	NP_001341829.1:p.Met395Thr
NM_001354901.1:c.1184T>C	NP_001341830.1:p.Met395Thr
NM_001354902.1:c.1088T>C	NP_001341831.1:p.Met363Thr
NM_001354903.1:c.1058T>C	NP_001341832.1:p.Met353Thr
NM_001354904.1:c.983T>C	NP_001341833.1:p.Met328Thr
NM_001354905.1:c.881T>C	NP_001341834.1:p.Met294Thr
NM_001354906.1:c.512T>C	NP_001341835.1:p.Met171Thr
NM_000038.6:c.1361T>C MANE Select	NP_000029.2:p.Met454Thr
NM_001127510.3:c.1361T>C	NP_001120982.1:p.Met454Thr
NM_001127511.3:c.1307T>C	NP_001120983.2:p.Met436Thr
NM_001354895.2:c.1361T>C	NP_001341824.1:p.Met454Thr
NM_001354896.2:c.1361T>C	NP_001341825.1:p.Met454Thr
NM_001354897.2:c.1391T>C	NP_001341826.1:p.Met464Thr
NM_001354898.2:c.1286T>C	NP_001341827.1:p.Met429Thr
NM_001354899.2:c.1277T>C	NP_001341828.1:p.Met426Thr
NM_001354900.2:c.1184T>C	NP_001341829.1:p.Met395Thr
NM_001354901.2:c.1184T>C	NP_001341830.1:p.Met395Thr
NM_001354902.2:c.1088T>C	NP_001341831.1:p.Met363Thr
NM_001354903.2:c.1058T>C	NP_001341832.1:p.Met353Thr
NM_001354904.2:c.983T>C	NP_001341833.1:p.Met328Thr
NM_001354905.2:c.881T>C	NP_001341834.1:p.Met294Thr
NM_001354906.2:c.512T>C	NP_001341835.1:p.Met171Thr