Canonical Allele Identifier: CA16036352

Gene: APC

Linked Data

• ClinVar Variation Id: 644645
• ClinVar RCV Id: RCV001025757 ; RCV003535900 ; RCV003318638
• dbSNP Id: rs1554087821
• MyVariant Identifiers: chr5:g.112178174T>G (hg19) ; chr5:g.112842477T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112842477T>G , CM000667.2:g.112842477T>G	GRCh38
NC_000005.9:g.112178174T>G , CM000667.1:g.112178174T>G	GRCh37
NC_000005.8:g.112206073T>G	NCBI36
NG_008481.4:g.154957T>G , LRG_130:g.154957T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.6937T>G	ENSP00000473355.2:p.Ser2313Ala
ENST00000505350.2:c.*6889T>G	ENSP00000481752.1:n.*6889T>G
ENST00000507379.6:c.6829T>G	ENSP00000423224.2:p.Ser2277Ala
ENST00000509732.6:c.6883T>G	ENSP00000426541.2:p.Ser2295Ala
ENST00000512211.7:c.6883T>G	ENSP00000423828.3:p.Ser2295Ala
ENST00000257430.9:c.6883T>G MANE Select	ENSP00000257430.4:p.Ser2295Ala
ENST00000257430.8:c.6883T>G	ENSP00000257430.4:p.Ser2295Ala
ENST00000508376.6:c.6883T>G	ENSP00000427089.2:p.Ser2295Ala
ENST00000508624.5:c.*6205T>G	ENSP00000424265.1:n.*6205T>G
ENST00000520401.1:c.230+13505T>G
NM_000038.5:c.6883T>G	NP_000029.2:p.Ser2295Ala
NM_001127510.2:c.6883T>G	NP_001120982.1:p.Ser2295Ala
NM_001127511.2:c.6829T>G	NP_001120983.2:p.Ser2277Ala
NM_001354895.1:c.6883T>G	NP_001341824.1:p.Ser2295Ala
NM_001354896.1:c.6937T>G	NP_001341825.1:p.Ser2313Ala
NM_001354897.1:c.6913T>G	NP_001341826.1:p.Ser2305Ala
NM_001354898.1:c.6808T>G	NP_001341827.1:p.Ser2270Ala
NM_001354899.1:c.6799T>G	NP_001341828.1:p.Ser2267Ala
NM_001354900.1:c.6760T>G	NP_001341829.1:p.Ser2254Ala
NM_001354901.1:c.6706T>G	NP_001341830.1:p.Ser2236Ala
NM_001354902.1:c.6610T>G	NP_001341831.1:p.Ser2204Ala
NM_001354903.1:c.6580T>G	NP_001341832.1:p.Ser2194Ala
NM_001354904.1:c.6505T>G	NP_001341833.1:p.Ser2169Ala
NM_001354905.1:c.6403T>G	NP_001341834.1:p.Ser2135Ala
NM_001354906.1:c.6034T>G	NP_001341835.1:p.Ser2012Ala
NM_000038.6:c.6883T>G MANE Select	NP_000029.2:p.Ser2295Ala
NM_001127510.3:c.6883T>G	NP_001120982.1:p.Ser2295Ala
NM_001127511.3:c.6829T>G	NP_001120983.2:p.Ser2277Ala
NM_001354895.2:c.6883T>G	NP_001341824.1:p.Ser2295Ala
NM_001354896.2:c.6937T>G	NP_001341825.1:p.Ser2313Ala
NM_001354897.2:c.6913T>G	NP_001341826.1:p.Ser2305Ala
NM_001354898.2:c.6808T>G	NP_001341827.1:p.Ser2270Ala
NM_001354899.2:c.6799T>G	NP_001341828.1:p.Ser2267Ala
NM_001354900.2:c.6760T>G	NP_001341829.1:p.Ser2254Ala
NM_001354901.2:c.6706T>G	NP_001341830.1:p.Ser2236Ala
NM_001354902.2:c.6610T>G	NP_001341831.1:p.Ser2204Ala
NM_001354903.2:c.6580T>G	NP_001341832.1:p.Ser2194Ala
NM_001354904.2:c.6505T>G	NP_001341833.1:p.Ser2169Ala
NM_001354905.2:c.6403T>G	NP_001341834.1:p.Ser2135Ala
NM_001354906.2:c.6034T>G	NP_001341835.1:p.Ser2012Ala