Canonical Allele Identifier: CA16037602

Gene: APC

Linked Data

• MyVariant Identifiers: chr5:g.112178771T>G (hg19) ; chr5:g.112843074T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112843074T>G , CM000667.2:g.112843074T>G	GRCh38
NC_000005.9:g.112178771T>G , CM000667.1:g.112178771T>G	GRCh37
NC_000005.8:g.112206670T>G	NCBI36
NG_008481.4:g.155554T>G , LRG_130:g.155554T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.7534T>G	ENSP00000473355.2:p.Ser2512Ala
ENST00000505350.2:c.*7486T>G	ENSP00000481752.1:n.*7486T>G
ENST00000507379.6:c.7426T>G	ENSP00000423224.2:p.Ser2476Ala
ENST00000509732.6:c.7480T>G	ENSP00000426541.2:p.Ser2494Ala
ENST00000512211.7:c.7480T>G	ENSP00000423828.3:p.Ser2494Ala
ENST00000257430.9:c.7480T>G MANE Select	ENSP00000257430.4:p.Ser2494Ala
ENST00000257430.8:c.7480T>G	ENSP00000257430.4:p.Ser2494Ala
ENST00000508376.6:c.7480T>G	ENSP00000427089.2:p.Ser2494Ala
ENST00000520401.1:c.231-13575T>G
NM_000038.5:c.7480T>G	NP_000029.2:p.Ser2494Ala
NM_001127510.2:c.7480T>G	NP_001120982.1:p.Ser2494Ala
NM_001127511.2:c.7426T>G	NP_001120983.2:p.Ser2476Ala
NM_001354895.1:c.7480T>G	NP_001341824.1:p.Ser2494Ala
NM_001354896.1:c.7534T>G	NP_001341825.1:p.Ser2512Ala
NM_001354897.1:c.7510T>G	NP_001341826.1:p.Ser2504Ala
NM_001354898.1:c.7405T>G	NP_001341827.1:p.Ser2469Ala
NM_001354899.1:c.7396T>G	NP_001341828.1:p.Ser2466Ala
NM_001354900.1:c.7357T>G	NP_001341829.1:p.Ser2453Ala
NM_001354901.1:c.7303T>G	NP_001341830.1:p.Ser2435Ala
NM_001354902.1:c.7207T>G	NP_001341831.1:p.Ser2403Ala
NM_001354903.1:c.7177T>G	NP_001341832.1:p.Ser2393Ala
NM_001354904.1:c.7102T>G	NP_001341833.1:p.Ser2368Ala
NM_001354905.1:c.7000T>G	NP_001341834.1:p.Ser2334Ala
NM_001354906.1:c.6631T>G	NP_001341835.1:p.Ser2211Ala
NM_000038.6:c.7480T>G MANE Select	NP_000029.2:p.Ser2494Ala
NM_001127510.3:c.7480T>G	NP_001120982.1:p.Ser2494Ala
NM_001127511.3:c.7426T>G	NP_001120983.2:p.Ser2476Ala
NM_001354895.2:c.7480T>G	NP_001341824.1:p.Ser2494Ala
NM_001354896.2:c.7534T>G	NP_001341825.1:p.Ser2512Ala
NM_001354897.2:c.7510T>G	NP_001341826.1:p.Ser2504Ala
NM_001354898.2:c.7405T>G	NP_001341827.1:p.Ser2469Ala
NM_001354899.2:c.7396T>G	NP_001341828.1:p.Ser2466Ala
NM_001354900.2:c.7357T>G	NP_001341829.1:p.Ser2453Ala
NM_001354901.2:c.7303T>G	NP_001341830.1:p.Ser2435Ala
NM_001354902.2:c.7207T>G	NP_001341831.1:p.Ser2403Ala
NM_001354903.2:c.7177T>G	NP_001341832.1:p.Ser2393Ala
NM_001354904.2:c.7102T>G	NP_001341833.1:p.Ser2368Ala
NM_001354905.2:c.7000T>G	NP_001341834.1:p.Ser2334Ala
NM_001354906.2:c.6631T>G	NP_001341835.1:p.Ser2211Ala