Canonical Allele Identifier: CA16036569

Gene: APC

Linked Data

• ClinVar Variation Id: 485159
• ClinVar RCV Id: RCV000563660 ; RCV001153052 ; RCV000695048 ; RCV003744570
• dbSNP Id: rs1554087891
• MyVariant Identifiers: chr5:g.112178280C>T (hg19) ; chr5:g.112842583C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112842583C>T , CM000667.2:g.112842583C>T	GRCh38
NC_000005.9:g.112178280C>T , CM000667.1:g.112178280C>T	GRCh37
NC_000005.8:g.112206179C>T	NCBI36
NG_008481.4:g.155063C>T , LRG_130:g.155063C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.7043C>T	ENSP00000473355.2:p.Ser2348Phe
ENST00000505350.2:c.*6995C>T	ENSP00000481752.1:n.*6995C>T
ENST00000507379.6:c.6935C>T	ENSP00000423224.2:p.Ser2312Phe
ENST00000509732.6:c.6989C>T	ENSP00000426541.2:p.Ser2330Phe
ENST00000512211.7:c.6989C>T	ENSP00000423828.3:p.Ser2330Phe
ENST00000257430.9:c.6989C>T MANE Select	ENSP00000257430.4:p.Ser2330Phe
ENST00000257430.8:c.6989C>T	ENSP00000257430.4:p.Ser2330Phe
ENST00000508376.6:c.6989C>T	ENSP00000427089.2:p.Ser2330Phe
ENST00000508624.5:c.*6311C>T	ENSP00000424265.1:n.*6311C>T
ENST00000520401.1:c.230+13611C>T
NM_000038.5:c.6989C>T	NP_000029.2:p.Ser2330Phe
NM_001127510.2:c.6989C>T	NP_001120982.1:p.Ser2330Phe
NM_001127511.2:c.6935C>T	NP_001120983.2:p.Ser2312Phe
NM_001354895.1:c.6989C>T	NP_001341824.1:p.Ser2330Phe
NM_001354896.1:c.7043C>T	NP_001341825.1:p.Ser2348Phe
NM_001354897.1:c.7019C>T	NP_001341826.1:p.Ser2340Phe
NM_001354898.1:c.6914C>T	NP_001341827.1:p.Ser2305Phe
NM_001354899.1:c.6905C>T	NP_001341828.1:p.Ser2302Phe
NM_001354900.1:c.6866C>T	NP_001341829.1:p.Ser2289Phe
NM_001354901.1:c.6812C>T	NP_001341830.1:p.Ser2271Phe
NM_001354902.1:c.6716C>T	NP_001341831.1:p.Ser2239Phe
NM_001354903.1:c.6686C>T	NP_001341832.1:p.Ser2229Phe
NM_001354904.1:c.6611C>T	NP_001341833.1:p.Ser2204Phe
NM_001354905.1:c.6509C>T	NP_001341834.1:p.Ser2170Phe
NM_001354906.1:c.6140C>T	NP_001341835.1:p.Ser2047Phe
NM_000038.6:c.6989C>T MANE Select	NP_000029.2:p.Ser2330Phe
NM_001127510.3:c.6989C>T	NP_001120982.1:p.Ser2330Phe
NM_001127511.3:c.6935C>T	NP_001120983.2:p.Ser2312Phe
NM_001354895.2:c.6989C>T	NP_001341824.1:p.Ser2330Phe
NM_001354896.2:c.7043C>T	NP_001341825.1:p.Ser2348Phe
NM_001354897.2:c.7019C>T	NP_001341826.1:p.Ser2340Phe
NM_001354898.2:c.6914C>T	NP_001341827.1:p.Ser2305Phe
NM_001354899.2:c.6905C>T	NP_001341828.1:p.Ser2302Phe
NM_001354900.2:c.6866C>T	NP_001341829.1:p.Ser2289Phe
NM_001354901.2:c.6812C>T	NP_001341830.1:p.Ser2271Phe
NM_001354902.2:c.6716C>T	NP_001341831.1:p.Ser2239Phe
NM_001354903.2:c.6686C>T	NP_001341832.1:p.Ser2229Phe
NM_001354904.2:c.6611C>T	NP_001341833.1:p.Ser2204Phe
NM_001354905.2:c.6509C>T	NP_001341834.1:p.Ser2170Phe
NM_001354906.2:c.6140C>T	NP_001341835.1:p.Ser2047Phe