Canonical Allele Identifier: CA16038217

Gene: APC

Linked Data

• dbSNP Id: rs754977173
• MyVariant Identifiers: chr5:g.112179064T>A (hg19) ; chr5:g.112843367T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112843367T>A , CM000667.2:g.112843367T>A	GRCh38
NC_000005.9:g.112179064T>A , CM000667.1:g.112179064T>A	GRCh37
NC_000005.8:g.112206963T>A	NCBI36
NG_008481.4:g.155847T>A , LRG_130:g.155847T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.7827T>A	ENSP00000473355.2:p.His2609Gln
ENST00000505350.2:c.*7779T>A	ENSP00000481752.1:n.*7779T>A
ENST00000507379.6:c.7719T>A	ENSP00000423224.2:p.His2573Gln
ENST00000509732.6:c.7773T>A	ENSP00000426541.2:p.His2591Gln
ENST00000512211.7:c.7773T>A	ENSP00000423828.3:p.His2591Gln
ENST00000257430.9:c.7773T>A MANE Select	ENSP00000257430.4:p.His2591Gln
ENST00000257430.8:c.7773T>A	ENSP00000257430.4:p.His2591Gln
ENST00000508376.6:c.7773T>A	ENSP00000427089.2:p.His2591Gln
ENST00000520401.1:c.231-13282T>A
NM_000038.5:c.7773T>A	NP_000029.2:p.His2591Gln
NM_001127510.2:c.7773T>A	NP_001120982.1:p.His2591Gln
NM_001127511.2:c.7719T>A	NP_001120983.2:p.His2573Gln
NM_001354895.1:c.7773T>A	NP_001341824.1:p.His2591Gln
NM_001354896.1:c.7827T>A	NP_001341825.1:p.His2609Gln
NM_001354897.1:c.7803T>A	NP_001341826.1:p.His2601Gln
NM_001354898.1:c.7698T>A	NP_001341827.1:p.His2566Gln
NM_001354899.1:c.7689T>A	NP_001341828.1:p.His2563Gln
NM_001354900.1:c.7650T>A	NP_001341829.1:p.His2550Gln
NM_001354901.1:c.7596T>A	NP_001341830.1:p.His2532Gln
NM_001354902.1:c.7500T>A	NP_001341831.1:p.His2500Gln
NM_001354903.1:c.7470T>A	NP_001341832.1:p.His2490Gln
NM_001354904.1:c.7395T>A	NP_001341833.1:p.His2465Gln
NM_001354905.1:c.7293T>A	NP_001341834.1:p.His2431Gln
NM_001354906.1:c.6924T>A	NP_001341835.1:p.His2308Gln
NM_000038.6:c.7773T>A MANE Select	NP_000029.2:p.His2591Gln
NM_001127510.3:c.7773T>A	NP_001120982.1:p.His2591Gln
NM_001127511.3:c.7719T>A	NP_001120983.2:p.His2573Gln
NM_001354895.2:c.7773T>A	NP_001341824.1:p.His2591Gln
NM_001354896.2:c.7827T>A	NP_001341825.1:p.His2609Gln
NM_001354897.2:c.7803T>A	NP_001341826.1:p.His2601Gln
NM_001354898.2:c.7698T>A	NP_001341827.1:p.His2566Gln
NM_001354899.2:c.7689T>A	NP_001341828.1:p.His2563Gln
NM_001354900.2:c.7650T>A	NP_001341829.1:p.His2550Gln
NM_001354901.2:c.7596T>A	NP_001341830.1:p.His2532Gln
NM_001354902.2:c.7500T>A	NP_001341831.1:p.His2500Gln
NM_001354903.2:c.7470T>A	NP_001341832.1:p.His2490Gln
NM_001354904.2:c.7395T>A	NP_001341833.1:p.His2465Gln
NM_001354905.2:c.7293T>A	NP_001341834.1:p.His2431Gln
NM_001354906.2:c.6924T>A	NP_001341835.1:p.His2308Gln