Canonical Allele Identifier: CA16039187

Gene: APC

Linked Data

• MyVariant Identifiers: chr5:g.112179516A>T (hg19) ; chr5:g.112843819A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112843819A>T , CM000667.2:g.112843819A>T	GRCh38
NC_000005.9:g.112179516A>T , CM000667.1:g.112179516A>T	GRCh37
NC_000005.8:g.112207415A>T	NCBI36
NG_008481.4:g.156299A>T , LRG_130:g.156299A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.8279A>T	ENSP00000473355.2:p.Gln2760Leu
ENST00000505350.2:c.*8231A>T	ENSP00000481752.1:n.*8231A>T
ENST00000507379.6:c.8171A>T	ENSP00000423224.2:p.Gln2724Leu
ENST00000509732.6:c.8225A>T	ENSP00000426541.2:p.Gln2742Leu
ENST00000512211.7:c.8225A>T	ENSP00000423828.3:p.Gln2742Leu
ENST00000257430.9:c.8225A>T MANE Select	ENSP00000257430.4:p.Gln2742Leu
ENST00000257430.8:c.8225A>T	ENSP00000257430.4:p.Gln2742Leu
ENST00000508376.6:c.8225A>T	ENSP00000427089.2:p.Gln2742Leu
ENST00000520401.1:c.231-12830A>T
NM_000038.5:c.8225A>T	NP_000029.2:p.Gln2742Leu
NM_001127510.2:c.8225A>T	NP_001120982.1:p.Gln2742Leu
NM_001127511.2:c.8171A>T	NP_001120983.2:p.Gln2724Leu
NM_001354895.1:c.8225A>T	NP_001341824.1:p.Gln2742Leu
NM_001354896.1:c.8279A>T	NP_001341825.1:p.Gln2760Leu
NM_001354897.1:c.8255A>T	NP_001341826.1:p.Gln2752Leu
NM_001354898.1:c.8150A>T	NP_001341827.1:p.Gln2717Leu
NM_001354899.1:c.8141A>T	NP_001341828.1:p.Gln2714Leu
NM_001354900.1:c.8102A>T	NP_001341829.1:p.Gln2701Leu
NM_001354901.1:c.8048A>T	NP_001341830.1:p.Gln2683Leu
NM_001354902.1:c.7952A>T	NP_001341831.1:p.Gln2651Leu
NM_001354903.1:c.7922A>T	NP_001341832.1:p.Gln2641Leu
NM_001354904.1:c.7847A>T	NP_001341833.1:p.Gln2616Leu
NM_001354905.1:c.7745A>T	NP_001341834.1:p.Gln2582Leu
NM_001354906.1:c.7376A>T	NP_001341835.1:p.Gln2459Leu
NM_000038.6:c.8225A>T MANE Select	NP_000029.2:p.Gln2742Leu
NM_001127510.3:c.8225A>T	NP_001120982.1:p.Gln2742Leu
NM_001127511.3:c.8171A>T	NP_001120983.2:p.Gln2724Leu
NM_001354895.2:c.8225A>T	NP_001341824.1:p.Gln2742Leu
NM_001354896.2:c.8279A>T	NP_001341825.1:p.Gln2760Leu
NM_001354897.2:c.8255A>T	NP_001341826.1:p.Gln2752Leu
NM_001354898.2:c.8150A>T	NP_001341827.1:p.Gln2717Leu
NM_001354899.2:c.8141A>T	NP_001341828.1:p.Gln2714Leu
NM_001354900.2:c.8102A>T	NP_001341829.1:p.Gln2701Leu
NM_001354901.2:c.8048A>T	NP_001341830.1:p.Gln2683Leu
NM_001354902.2:c.7952A>T	NP_001341831.1:p.Gln2651Leu
NM_001354903.2:c.7922A>T	NP_001341832.1:p.Gln2641Leu
NM_001354904.2:c.7847A>T	NP_001341833.1:p.Gln2616Leu
NM_001354905.2:c.7745A>T	NP_001341834.1:p.Gln2582Leu
NM_001354906.2:c.7376A>T	NP_001341835.1:p.Gln2459Leu