Canonical Allele Identifier: CA012942

Gene: APC

Linked Data

• ClinVar Variation Id: 181817
• ClinVar RCV Id: RCV000159569
• dbSNP Id: rs730881258
• MyVariant Identifiers: chr5:g.112178505A>G (hg19) ; chr5:g.112842808A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112842808A>G , CM000667.2:g.112842808A>G	GRCh38
NC_000005.9:g.112178505A>G , CM000667.1:g.112178505A>G	GRCh37
NC_000005.8:g.112206404A>G	NCBI36
NG_008481.4:g.155288A>G , LRG_130:g.155288A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.7268A>G	ENSP00000473355.2:p.Asn2423Ser
ENST00000505350.2:c.*7220A>G	ENSP00000481752.1:n.*7220A>G
ENST00000507379.6:c.7160A>G	ENSP00000423224.2:p.Asn2387Ser
ENST00000509732.6:c.7214A>G	ENSP00000426541.2:p.Asn2405Ser
ENST00000512211.7:c.7214A>G	ENSP00000423828.3:p.Asn2405Ser
ENST00000257430.9:c.7214A>G MANE Select	ENSP00000257430.4:p.Asn2405Ser
ENST00000257430.8:c.7214A>G	ENSP00000257430.4:p.Asn2405Ser
ENST00000508376.6:c.7214A>G	ENSP00000427089.2:p.Asn2405Ser
ENST00000520401.1:c.230+13836A>G
NM_000038.5:c.7214A>G	NP_000029.2:p.Asn2405Ser
NM_001127510.2:c.7214A>G	NP_001120982.1:p.Asn2405Ser
NM_001127511.2:c.7160A>G	NP_001120983.2:p.Asn2387Ser
NM_001354895.1:c.7214A>G	NP_001341824.1:p.Asn2405Ser
NM_001354896.1:c.7268A>G	NP_001341825.1:p.Asn2423Ser
NM_001354897.1:c.7244A>G	NP_001341826.1:p.Asn2415Ser
NM_001354898.1:c.7139A>G	NP_001341827.1:p.Asn2380Ser
NM_001354899.1:c.7130A>G	NP_001341828.1:p.Asn2377Ser
NM_001354900.1:c.7091A>G	NP_001341829.1:p.Asn2364Ser
NM_001354901.1:c.7037A>G	NP_001341830.1:p.Asn2346Ser
NM_001354902.1:c.6941A>G	NP_001341831.1:p.Asn2314Ser
NM_001354903.1:c.6911A>G	NP_001341832.1:p.Asn2304Ser
NM_001354904.1:c.6836A>G	NP_001341833.1:p.Asn2279Ser
NM_001354905.1:c.6734A>G	NP_001341834.1:p.Asn2245Ser
NM_001354906.1:c.6365A>G	NP_001341835.1:p.Asn2122Ser
NM_000038.6:c.7214A>G MANE Select	NP_000029.2:p.Asn2405Ser
NM_001127510.3:c.7214A>G	NP_001120982.1:p.Asn2405Ser
NM_001127511.3:c.7160A>G	NP_001120983.2:p.Asn2387Ser
NM_001354895.2:c.7214A>G	NP_001341824.1:p.Asn2405Ser
NM_001354896.2:c.7268A>G	NP_001341825.1:p.Asn2423Ser
NM_001354897.2:c.7244A>G	NP_001341826.1:p.Asn2415Ser
NM_001354898.2:c.7139A>G	NP_001341827.1:p.Asn2380Ser
NM_001354899.2:c.7130A>G	NP_001341828.1:p.Asn2377Ser
NM_001354900.2:c.7091A>G	NP_001341829.1:p.Asn2364Ser
NM_001354901.2:c.7037A>G	NP_001341830.1:p.Asn2346Ser
NM_001354902.2:c.6941A>G	NP_001341831.1:p.Asn2314Ser
NM_001354903.2:c.6911A>G	NP_001341832.1:p.Asn2304Ser
NM_001354904.2:c.6836A>G	NP_001341833.1:p.Asn2279Ser
NM_001354905.2:c.6734A>G	NP_001341834.1:p.Asn2245Ser
NM_001354906.2:c.6365A>G	NP_001341835.1:p.Asn2122Ser