Canonical Allele Identifier: CA16036735

Gene: APC

Linked Data

• dbSNP Id: rs2149979353
• MyVariant Identifiers: chr5:g.112178361A>G (hg19) ; chr5:g.112842664A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112842664A>G , CM000667.2:g.112842664A>G	GRCh38
NC_000005.9:g.112178361A>G , CM000667.1:g.112178361A>G	GRCh37
NC_000005.8:g.112206260A>G	NCBI36
NG_008481.4:g.155144A>G , LRG_130:g.155144A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.7124A>G	ENSP00000473355.2:p.Lys2375Arg
ENST00000505350.2:c.*7076A>G	ENSP00000481752.1:n.*7076A>G
ENST00000507379.6:c.7016A>G	ENSP00000423224.2:p.Lys2339Arg
ENST00000509732.6:c.7070A>G	ENSP00000426541.2:p.Lys2357Arg
ENST00000512211.7:c.7070A>G	ENSP00000423828.3:p.Lys2357Arg
ENST00000257430.9:c.7070A>G MANE Select	ENSP00000257430.4:p.Lys2357Arg
ENST00000257430.8:c.7070A>G	ENSP00000257430.4:p.Lys2357Arg
ENST00000508376.6:c.7070A>G	ENSP00000427089.2:p.Lys2357Arg
ENST00000508624.5:c.*6392A>G	ENSP00000424265.1:n.*6392A>G
ENST00000520401.1:c.230+13692A>G
NM_000038.5:c.7070A>G	NP_000029.2:p.Lys2357Arg
NM_001127510.2:c.7070A>G	NP_001120982.1:p.Lys2357Arg
NM_001127511.2:c.7016A>G	NP_001120983.2:p.Lys2339Arg
NM_001354895.1:c.7070A>G	NP_001341824.1:p.Lys2357Arg
NM_001354896.1:c.7124A>G	NP_001341825.1:p.Lys2375Arg
NM_001354897.1:c.7100A>G	NP_001341826.1:p.Lys2367Arg
NM_001354898.1:c.6995A>G	NP_001341827.1:p.Lys2332Arg
NM_001354899.1:c.6986A>G	NP_001341828.1:p.Lys2329Arg
NM_001354900.1:c.6947A>G	NP_001341829.1:p.Lys2316Arg
NM_001354901.1:c.6893A>G	NP_001341830.1:p.Lys2298Arg
NM_001354902.1:c.6797A>G	NP_001341831.1:p.Lys2266Arg
NM_001354903.1:c.6767A>G	NP_001341832.1:p.Lys2256Arg
NM_001354904.1:c.6692A>G	NP_001341833.1:p.Lys2231Arg
NM_001354905.1:c.6590A>G	NP_001341834.1:p.Lys2197Arg
NM_001354906.1:c.6221A>G	NP_001341835.1:p.Lys2074Arg
NM_000038.6:c.7070A>G MANE Select	NP_000029.2:p.Lys2357Arg
NM_001127510.3:c.7070A>G	NP_001120982.1:p.Lys2357Arg
NM_001127511.3:c.7016A>G	NP_001120983.2:p.Lys2339Arg
NM_001354895.2:c.7070A>G	NP_001341824.1:p.Lys2357Arg
NM_001354896.2:c.7124A>G	NP_001341825.1:p.Lys2375Arg
NM_001354897.2:c.7100A>G	NP_001341826.1:p.Lys2367Arg
NM_001354898.2:c.6995A>G	NP_001341827.1:p.Lys2332Arg
NM_001354899.2:c.6986A>G	NP_001341828.1:p.Lys2329Arg
NM_001354900.2:c.6947A>G	NP_001341829.1:p.Lys2316Arg
NM_001354901.2:c.6893A>G	NP_001341830.1:p.Lys2298Arg
NM_001354902.2:c.6797A>G	NP_001341831.1:p.Lys2266Arg
NM_001354903.2:c.6767A>G	NP_001341832.1:p.Lys2256Arg
NM_001354904.2:c.6692A>G	NP_001341833.1:p.Lys2231Arg
NM_001354905.2:c.6590A>G	NP_001341834.1:p.Lys2197Arg
NM_001354906.2:c.6221A>G	NP_001341835.1:p.Lys2074Arg