Canonical Allele Identifier: CA16036492

Gene: APC

Linked Data

• MyVariant Identifiers: chr5:g.112178242A>T (hg19) ; chr5:g.112842545A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112842545A>T , CM000667.2:g.112842545A>T	GRCh38
NC_000005.9:g.112178242A>T , CM000667.1:g.112178242A>T	GRCh37
NC_000005.8:g.112206141A>T	NCBI36
NG_008481.4:g.155025A>T , LRG_130:g.155025A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.7005A>T	ENSP00000473355.2:p.Leu2335Phe
ENST00000505350.2:c.*6957A>T	ENSP00000481752.1:n.*6957A>T
ENST00000507379.6:c.6897A>T	ENSP00000423224.2:p.Leu2299Phe
ENST00000509732.6:c.6951A>T	ENSP00000426541.2:p.Leu2317Phe
ENST00000512211.7:c.6951A>T	ENSP00000423828.3:p.Leu2317Phe
ENST00000257430.9:c.6951A>T MANE Select	ENSP00000257430.4:p.Leu2317Phe
ENST00000257430.8:c.6951A>T	ENSP00000257430.4:p.Leu2317Phe
ENST00000508376.6:c.6951A>T	ENSP00000427089.2:p.Leu2317Phe
ENST00000508624.5:c.*6273A>T	ENSP00000424265.1:n.*6273A>T
ENST00000520401.1:c.230+13573A>T
NM_000038.5:c.6951A>T	NP_000029.2:p.Leu2317Phe
NM_001127510.2:c.6951A>T	NP_001120982.1:p.Leu2317Phe
NM_001127511.2:c.6897A>T	NP_001120983.2:p.Leu2299Phe
NM_001354895.1:c.6951A>T	NP_001341824.1:p.Leu2317Phe
NM_001354896.1:c.7005A>T	NP_001341825.1:p.Leu2335Phe
NM_001354897.1:c.6981A>T	NP_001341826.1:p.Leu2327Phe
NM_001354898.1:c.6876A>T	NP_001341827.1:p.Leu2292Phe
NM_001354899.1:c.6867A>T	NP_001341828.1:p.Leu2289Phe
NM_001354900.1:c.6828A>T	NP_001341829.1:p.Leu2276Phe
NM_001354901.1:c.6774A>T	NP_001341830.1:p.Leu2258Phe
NM_001354902.1:c.6678A>T	NP_001341831.1:p.Leu2226Phe
NM_001354903.1:c.6648A>T	NP_001341832.1:p.Leu2216Phe
NM_001354904.1:c.6573A>T	NP_001341833.1:p.Leu2191Phe
NM_001354905.1:c.6471A>T	NP_001341834.1:p.Leu2157Phe
NM_001354906.1:c.6102A>T	NP_001341835.1:p.Leu2034Phe
NM_000038.6:c.6951A>T MANE Select	NP_000029.2:p.Leu2317Phe
NM_001127510.3:c.6951A>T	NP_001120982.1:p.Leu2317Phe
NM_001127511.3:c.6897A>T	NP_001120983.2:p.Leu2299Phe
NM_001354895.2:c.6951A>T	NP_001341824.1:p.Leu2317Phe
NM_001354896.2:c.7005A>T	NP_001341825.1:p.Leu2335Phe
NM_001354897.2:c.6981A>T	NP_001341826.1:p.Leu2327Phe
NM_001354898.2:c.6876A>T	NP_001341827.1:p.Leu2292Phe
NM_001354899.2:c.6867A>T	NP_001341828.1:p.Leu2289Phe
NM_001354900.2:c.6828A>T	NP_001341829.1:p.Leu2276Phe
NM_001354901.2:c.6774A>T	NP_001341830.1:p.Leu2258Phe
NM_001354902.2:c.6678A>T	NP_001341831.1:p.Leu2226Phe
NM_001354903.2:c.6648A>T	NP_001341832.1:p.Leu2216Phe
NM_001354904.2:c.6573A>T	NP_001341833.1:p.Leu2191Phe
NM_001354905.2:c.6471A>T	NP_001341834.1:p.Leu2157Phe
NM_001354906.2:c.6102A>T	NP_001341835.1:p.Leu2034Phe