Canonical Allele Identifier: CA16036783

Gene: APC

Linked Data

• dbSNP Id: rs2149979908
• MyVariant Identifiers: chr5:g.112178385C>A (hg19) ; chr5:g.112842688C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112842688C>A , CM000667.2:g.112842688C>A	GRCh38
NC_000005.9:g.112178385C>A , CM000667.1:g.112178385C>A	GRCh37
NC_000005.8:g.112206284C>A	NCBI36
NG_008481.4:g.155168C>A , LRG_130:g.155168C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.7148C>A	ENSP00000473355.2:p.Ser2383Ter
ENST00000505350.2:c.*7100C>A	ENSP00000481752.1:n.*7100C>A
ENST00000507379.6:c.7040C>A	ENSP00000423224.2:p.Ser2347Ter
ENST00000509732.6:c.7094C>A	ENSP00000426541.2:p.Ser2365Ter
ENST00000512211.7:c.7094C>A	ENSP00000423828.3:p.Ser2365Ter
ENST00000257430.9:c.7094C>A MANE Select	ENSP00000257430.4:p.Ser2365Ter
ENST00000257430.8:c.7094C>A	ENSP00000257430.4:p.Ser2365Ter
ENST00000508376.6:c.7094C>A	ENSP00000427089.2:p.Ser2365Ter
ENST00000508624.5:c.*6416C>A	ENSP00000424265.1:n.*6416C>A
ENST00000520401.1:c.230+13716C>A
NM_000038.5:c.7094C>A	NP_000029.2:p.Ser2365Ter
NM_001127510.2:c.7094C>A	NP_001120982.1:p.Ser2365Ter
NM_001127511.2:c.7040C>A	NP_001120983.2:p.Ser2347Ter
NM_001354895.1:c.7094C>A	NP_001341824.1:p.Ser2365Ter
NM_001354896.1:c.7148C>A	NP_001341825.1:p.Ser2383Ter
NM_001354897.1:c.7124C>A	NP_001341826.1:p.Ser2375Ter
NM_001354898.1:c.7019C>A	NP_001341827.1:p.Ser2340Ter
NM_001354899.1:c.7010C>A	NP_001341828.1:p.Ser2337Ter
NM_001354900.1:c.6971C>A	NP_001341829.1:p.Ser2324Ter
NM_001354901.1:c.6917C>A	NP_001341830.1:p.Ser2306Ter
NM_001354902.1:c.6821C>A	NP_001341831.1:p.Ser2274Ter
NM_001354903.1:c.6791C>A	NP_001341832.1:p.Ser2264Ter
NM_001354904.1:c.6716C>A	NP_001341833.1:p.Ser2239Ter
NM_001354905.1:c.6614C>A	NP_001341834.1:p.Ser2205Ter
NM_001354906.1:c.6245C>A	NP_001341835.1:p.Ser2082Ter
NM_000038.6:c.7094C>A MANE Select	NP_000029.2:p.Ser2365Ter
NM_001127510.3:c.7094C>A	NP_001120982.1:p.Ser2365Ter
NM_001127511.3:c.7040C>A	NP_001120983.2:p.Ser2347Ter
NM_001354895.2:c.7094C>A	NP_001341824.1:p.Ser2365Ter
NM_001354896.2:c.7148C>A	NP_001341825.1:p.Ser2383Ter
NM_001354897.2:c.7124C>A	NP_001341826.1:p.Ser2375Ter
NM_001354898.2:c.7019C>A	NP_001341827.1:p.Ser2340Ter
NM_001354899.2:c.7010C>A	NP_001341828.1:p.Ser2337Ter
NM_001354900.2:c.6971C>A	NP_001341829.1:p.Ser2324Ter
NM_001354901.2:c.6917C>A	NP_001341830.1:p.Ser2306Ter
NM_001354902.2:c.6821C>A	NP_001341831.1:p.Ser2274Ter
NM_001354903.2:c.6791C>A	NP_001341832.1:p.Ser2264Ter
NM_001354904.2:c.6716C>A	NP_001341833.1:p.Ser2239Ter
NM_001354905.2:c.6614C>A	NP_001341834.1:p.Ser2205Ter
NM_001354906.2:c.6245C>A	NP_001341835.1:p.Ser2082Ter