Canonical Allele Identifier: CA16038087

Gene: APC

Linked Data

• dbSNP Id: rs2149992456
• MyVariant Identifiers: chr5:g.112179005T>C (hg19) ; chr5:g.112843308T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112843308T>C , CM000667.2:g.112843308T>C	GRCh38
NC_000005.9:g.112179005T>C , CM000667.1:g.112179005T>C	GRCh37
NC_000005.8:g.112206904T>C	NCBI36
NG_008481.4:g.155788T>C , LRG_130:g.155788T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.7768T>C	ENSP00000473355.2:p.Ser2590Pro
ENST00000505350.2:c.*7720T>C	ENSP00000481752.1:n.*7720T>C
ENST00000507379.6:c.7660T>C	ENSP00000423224.2:p.Ser2554Pro
ENST00000509732.6:c.7714T>C	ENSP00000426541.2:p.Ser2572Pro
ENST00000512211.7:c.7714T>C	ENSP00000423828.3:p.Ser2572Pro
ENST00000257430.9:c.7714T>C MANE Select	ENSP00000257430.4:p.Ser2572Pro
ENST00000257430.8:c.7714T>C	ENSP00000257430.4:p.Ser2572Pro
ENST00000508376.6:c.7714T>C	ENSP00000427089.2:p.Ser2572Pro
ENST00000520401.1:c.231-13341T>C
NM_000038.5:c.7714T>C	NP_000029.2:p.Ser2572Pro
NM_001127510.2:c.7714T>C	NP_001120982.1:p.Ser2572Pro
NM_001127511.2:c.7660T>C	NP_001120983.2:p.Ser2554Pro
NM_001354895.1:c.7714T>C	NP_001341824.1:p.Ser2572Pro
NM_001354896.1:c.7768T>C	NP_001341825.1:p.Ser2590Pro
NM_001354897.1:c.7744T>C	NP_001341826.1:p.Ser2582Pro
NM_001354898.1:c.7639T>C	NP_001341827.1:p.Ser2547Pro
NM_001354899.1:c.7630T>C	NP_001341828.1:p.Ser2544Pro
NM_001354900.1:c.7591T>C	NP_001341829.1:p.Ser2531Pro
NM_001354901.1:c.7537T>C	NP_001341830.1:p.Ser2513Pro
NM_001354902.1:c.7441T>C	NP_001341831.1:p.Ser2481Pro
NM_001354903.1:c.7411T>C	NP_001341832.1:p.Ser2471Pro
NM_001354904.1:c.7336T>C	NP_001341833.1:p.Ser2446Pro
NM_001354905.1:c.7234T>C	NP_001341834.1:p.Ser2412Pro
NM_001354906.1:c.6865T>C	NP_001341835.1:p.Ser2289Pro
NM_000038.6:c.7714T>C MANE Select	NP_000029.2:p.Ser2572Pro
NM_001127510.3:c.7714T>C	NP_001120982.1:p.Ser2572Pro
NM_001127511.3:c.7660T>C	NP_001120983.2:p.Ser2554Pro
NM_001354895.2:c.7714T>C	NP_001341824.1:p.Ser2572Pro
NM_001354896.2:c.7768T>C	NP_001341825.1:p.Ser2590Pro
NM_001354897.2:c.7744T>C	NP_001341826.1:p.Ser2582Pro
NM_001354898.2:c.7639T>C	NP_001341827.1:p.Ser2547Pro
NM_001354899.2:c.7630T>C	NP_001341828.1:p.Ser2544Pro
NM_001354900.2:c.7591T>C	NP_001341829.1:p.Ser2531Pro
NM_001354901.2:c.7537T>C	NP_001341830.1:p.Ser2513Pro
NM_001354902.2:c.7441T>C	NP_001341831.1:p.Ser2481Pro
NM_001354903.2:c.7411T>C	NP_001341832.1:p.Ser2471Pro
NM_001354904.2:c.7336T>C	NP_001341833.1:p.Ser2446Pro
NM_001354905.2:c.7234T>C	NP_001341834.1:p.Ser2412Pro
NM_001354906.2:c.6865T>C	NP_001341835.1:p.Ser2289Pro