Canonical Allele Identifier: CA16037450

Gene: APC

Linked Data

• ClinVar Variation Id: 576900
• ClinVar RCV Id: RCV003534678
• dbSNP Id: rs1561615239
• MyVariant Identifiers: chr5:g.112178696T>C (hg19) ; chr5:g.112842999T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112842999T>C , CM000667.2:g.112842999T>C	GRCh38
NC_000005.9:g.112178696T>C , CM000667.1:g.112178696T>C	GRCh37
NC_000005.8:g.112206595T>C	NCBI36
NG_008481.4:g.155479T>C , LRG_130:g.155479T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.7459T>C	ENSP00000473355.2:p.Ser2487Pro
ENST00000505350.2:c.*7411T>C	ENSP00000481752.1:n.*7411T>C
ENST00000507379.6:c.7351T>C	ENSP00000423224.2:p.Ser2451Pro
ENST00000509732.6:c.7405T>C	ENSP00000426541.2:p.Ser2469Pro
ENST00000512211.7:c.7405T>C	ENSP00000423828.3:p.Ser2469Pro
ENST00000257430.9:c.7405T>C MANE Select	ENSP00000257430.4:p.Ser2469Pro
ENST00000257430.8:c.7405T>C	ENSP00000257430.4:p.Ser2469Pro
ENST00000508376.6:c.7405T>C	ENSP00000427089.2:p.Ser2469Pro
ENST00000520401.1:c.231-13650T>C
NM_000038.5:c.7405T>C	NP_000029.2:p.Ser2469Pro
NM_001127510.2:c.7405T>C	NP_001120982.1:p.Ser2469Pro
NM_001127511.2:c.7351T>C	NP_001120983.2:p.Ser2451Pro
NM_001354895.1:c.7405T>C	NP_001341824.1:p.Ser2469Pro
NM_001354896.1:c.7459T>C	NP_001341825.1:p.Ser2487Pro
NM_001354897.1:c.7435T>C	NP_001341826.1:p.Ser2479Pro
NM_001354898.1:c.7330T>C	NP_001341827.1:p.Ser2444Pro
NM_001354899.1:c.7321T>C	NP_001341828.1:p.Ser2441Pro
NM_001354900.1:c.7282T>C	NP_001341829.1:p.Ser2428Pro
NM_001354901.1:c.7228T>C	NP_001341830.1:p.Ser2410Pro
NM_001354902.1:c.7132T>C	NP_001341831.1:p.Ser2378Pro
NM_001354903.1:c.7102T>C	NP_001341832.1:p.Ser2368Pro
NM_001354904.1:c.7027T>C	NP_001341833.1:p.Ser2343Pro
NM_001354905.1:c.6925T>C	NP_001341834.1:p.Ser2309Pro
NM_001354906.1:c.6556T>C	NP_001341835.1:p.Ser2186Pro
NM_000038.6:c.7405T>C MANE Select	NP_000029.2:p.Ser2469Pro
NM_001127510.3:c.7405T>C	NP_001120982.1:p.Ser2469Pro
NM_001127511.3:c.7351T>C	NP_001120983.2:p.Ser2451Pro
NM_001354895.2:c.7405T>C	NP_001341824.1:p.Ser2469Pro
NM_001354896.2:c.7459T>C	NP_001341825.1:p.Ser2487Pro
NM_001354897.2:c.7435T>C	NP_001341826.1:p.Ser2479Pro
NM_001354898.2:c.7330T>C	NP_001341827.1:p.Ser2444Pro
NM_001354899.2:c.7321T>C	NP_001341828.1:p.Ser2441Pro
NM_001354900.2:c.7282T>C	NP_001341829.1:p.Ser2428Pro
NM_001354901.2:c.7228T>C	NP_001341830.1:p.Ser2410Pro
NM_001354902.2:c.7132T>C	NP_001341831.1:p.Ser2378Pro
NM_001354903.2:c.7102T>C	NP_001341832.1:p.Ser2368Pro
NM_001354904.2:c.7027T>C	NP_001341833.1:p.Ser2343Pro
NM_001354905.2:c.6925T>C	NP_001341834.1:p.Ser2309Pro
NM_001354906.2:c.6556T>C	NP_001341835.1:p.Ser2186Pro