Canonical Allele Identifier: CA16039221

Gene: APC

Linked Data

• dbSNP Id: rs2150001703
• MyVariant Identifiers: chr5:g.112179534T>G (hg19) ; chr5:g.112843837T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112843837T>G , CM000667.2:g.112843837T>G	GRCh38
NC_000005.9:g.112179534T>G , CM000667.1:g.112179534T>G	GRCh37
NC_000005.8:g.112207433T>G	NCBI36
NG_008481.4:g.156317T>G , LRG_130:g.156317T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.8297T>G	ENSP00000473355.2:p.Val2766Gly
ENST00000505350.2:c.*8249T>G	ENSP00000481752.1:n.*8249T>G
ENST00000507379.6:c.8189T>G	ENSP00000423224.2:p.Val2730Gly
ENST00000509732.6:c.8243T>G	ENSP00000426541.2:p.Val2748Gly
ENST00000512211.7:c.8243T>G	ENSP00000423828.3:p.Val2748Gly
ENST00000257430.9:c.8243T>G MANE Select	ENSP00000257430.4:p.Val2748Gly
ENST00000257430.8:c.8243T>G	ENSP00000257430.4:p.Val2748Gly
ENST00000508376.6:c.8243T>G	ENSP00000427089.2:p.Val2748Gly
ENST00000520401.1:c.231-12812T>G
NM_000038.5:c.8243T>G	NP_000029.2:p.Val2748Gly
NM_001127510.2:c.8243T>G	NP_001120982.1:p.Val2748Gly
NM_001127511.2:c.8189T>G	NP_001120983.2:p.Val2730Gly
NM_001354895.1:c.8243T>G	NP_001341824.1:p.Val2748Gly
NM_001354896.1:c.8297T>G	NP_001341825.1:p.Val2766Gly
NM_001354897.1:c.8273T>G	NP_001341826.1:p.Val2758Gly
NM_001354898.1:c.8168T>G	NP_001341827.1:p.Val2723Gly
NM_001354899.1:c.8159T>G	NP_001341828.1:p.Val2720Gly
NM_001354900.1:c.8120T>G	NP_001341829.1:p.Val2707Gly
NM_001354901.1:c.8066T>G	NP_001341830.1:p.Val2689Gly
NM_001354902.1:c.7970T>G	NP_001341831.1:p.Val2657Gly
NM_001354903.1:c.7940T>G	NP_001341832.1:p.Val2647Gly
NM_001354904.1:c.7865T>G	NP_001341833.1:p.Val2622Gly
NM_001354905.1:c.7763T>G	NP_001341834.1:p.Val2588Gly
NM_001354906.1:c.7394T>G	NP_001341835.1:p.Val2465Gly
NM_000038.6:c.8243T>G MANE Select	NP_000029.2:p.Val2748Gly
NM_001127510.3:c.8243T>G	NP_001120982.1:p.Val2748Gly
NM_001127511.3:c.8189T>G	NP_001120983.2:p.Val2730Gly
NM_001354895.2:c.8243T>G	NP_001341824.1:p.Val2748Gly
NM_001354896.2:c.8297T>G	NP_001341825.1:p.Val2766Gly
NM_001354897.2:c.8273T>G	NP_001341826.1:p.Val2758Gly
NM_001354898.2:c.8168T>G	NP_001341827.1:p.Val2723Gly
NM_001354899.2:c.8159T>G	NP_001341828.1:p.Val2720Gly
NM_001354900.2:c.8120T>G	NP_001341829.1:p.Val2707Gly
NM_001354901.2:c.8066T>G	NP_001341830.1:p.Val2689Gly
NM_001354902.2:c.7970T>G	NP_001341831.1:p.Val2657Gly
NM_001354903.2:c.7940T>G	NP_001341832.1:p.Val2647Gly
NM_001354904.2:c.7865T>G	NP_001341833.1:p.Val2622Gly
NM_001354905.2:c.7763T>G	NP_001341834.1:p.Val2588Gly
NM_001354906.2:c.7394T>G	NP_001341835.1:p.Val2465Gly