Canonical Allele Identifier: CA16036869

Gene: APC

Linked Data

• MyVariant Identifiers: chr5:g.112178424T>G (hg19) ; chr5:g.112842727T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112842727T>G , CM000667.2:g.112842727T>G	GRCh38
NC_000005.9:g.112178424T>G , CM000667.1:g.112178424T>G	GRCh37
NC_000005.8:g.112206323T>G	NCBI36
NG_008481.4:g.155207T>G , LRG_130:g.155207T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.7187T>G	ENSP00000473355.2:p.Leu2396Arg
ENST00000505350.2:c.*7139T>G	ENSP00000481752.1:n.*7139T>G
ENST00000507379.6:c.7079T>G	ENSP00000423224.2:p.Leu2360Arg
ENST00000509732.6:c.7133T>G	ENSP00000426541.2:p.Leu2378Arg
ENST00000512211.7:c.7133T>G	ENSP00000423828.3:p.Leu2378Arg
ENST00000257430.9:c.7133T>G MANE Select	ENSP00000257430.4:p.Leu2378Arg
ENST00000257430.8:c.7133T>G	ENSP00000257430.4:p.Leu2378Arg
ENST00000508376.6:c.7133T>G	ENSP00000427089.2:p.Leu2378Arg
ENST00000508624.5:c.*6455T>G	ENSP00000424265.1:n.*6455T>G
ENST00000520401.1:c.230+13755T>G
NM_000038.5:c.7133T>G	NP_000029.2:p.Leu2378Arg
NM_001127510.2:c.7133T>G	NP_001120982.1:p.Leu2378Arg
NM_001127511.2:c.7079T>G	NP_001120983.2:p.Leu2360Arg
NM_001354895.1:c.7133T>G	NP_001341824.1:p.Leu2378Arg
NM_001354896.1:c.7187T>G	NP_001341825.1:p.Leu2396Arg
NM_001354897.1:c.7163T>G	NP_001341826.1:p.Leu2388Arg
NM_001354898.1:c.7058T>G	NP_001341827.1:p.Leu2353Arg
NM_001354899.1:c.7049T>G	NP_001341828.1:p.Leu2350Arg
NM_001354900.1:c.7010T>G	NP_001341829.1:p.Leu2337Arg
NM_001354901.1:c.6956T>G	NP_001341830.1:p.Leu2319Arg
NM_001354902.1:c.6860T>G	NP_001341831.1:p.Leu2287Arg
NM_001354903.1:c.6830T>G	NP_001341832.1:p.Leu2277Arg
NM_001354904.1:c.6755T>G	NP_001341833.1:p.Leu2252Arg
NM_001354905.1:c.6653T>G	NP_001341834.1:p.Leu2218Arg
NM_001354906.1:c.6284T>G	NP_001341835.1:p.Leu2095Arg
NM_000038.6:c.7133T>G MANE Select	NP_000029.2:p.Leu2378Arg
NM_001127510.3:c.7133T>G	NP_001120982.1:p.Leu2378Arg
NM_001127511.3:c.7079T>G	NP_001120983.2:p.Leu2360Arg
NM_001354895.2:c.7133T>G	NP_001341824.1:p.Leu2378Arg
NM_001354896.2:c.7187T>G	NP_001341825.1:p.Leu2396Arg
NM_001354897.2:c.7163T>G	NP_001341826.1:p.Leu2388Arg
NM_001354898.2:c.7058T>G	NP_001341827.1:p.Leu2353Arg
NM_001354899.2:c.7049T>G	NP_001341828.1:p.Leu2350Arg
NM_001354900.2:c.7010T>G	NP_001341829.1:p.Leu2337Arg
NM_001354901.2:c.6956T>G	NP_001341830.1:p.Leu2319Arg
NM_001354902.2:c.6860T>G	NP_001341831.1:p.Leu2287Arg
NM_001354903.2:c.6830T>G	NP_001341832.1:p.Leu2277Arg
NM_001354904.2:c.6755T>G	NP_001341833.1:p.Leu2252Arg
NM_001354905.2:c.6653T>G	NP_001341834.1:p.Leu2218Arg
NM_001354906.2:c.6284T>G	NP_001341835.1:p.Leu2095Arg