Canonical Allele Identifier: CA16025593

Gene: APC

Linked Data

• ClinVar Variation Id: 939904
• ClinVar RCV Id: RCV002418708 ; RCV003650685
• dbSNP Id: rs1064793716
• MyVariant Identifiers: chr5:g.112170860C>G (hg19) ; chr5:g.112835163C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112835163C>G , CM000667.2:g.112835163C>G	GRCh38
NC_000005.9:g.112170860C>G , CM000667.1:g.112170860C>G	GRCh37
NC_000005.8:g.112198759C>G	NCBI36
NG_008481.4:g.147643C>G , LRG_130:g.147643C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502371.3:c.1621C>G	ENSP00000484935.2:n.1621C>G
ENST00000504915.3:c.2010C>G	ENSP00000473355.2:p.His670Gln
ENST00000505350.2:c.*1962C>G	ENSP00000481752.1:n.*1962C>G
ENST00000507379.6:c.1902C>G	ENSP00000423224.2:p.His634Gln
ENST00000509732.6:c.1956C>G	ENSP00000426541.2:p.His652Gln
ENST00000512211.7:c.1956C>G	ENSP00000423828.3:p.His652Gln
ENST00000257430.9:c.1956C>G MANE Select	ENSP00000257430.4:p.His652Gln
ENST00000257430.8:c.1956C>G	ENSP00000257430.4:p.His652Gln
ENST00000502371.2:c.309C>G
ENST00000504915.2:c.645C>G	ENSP00000473355.1:p.His215Gln
ENST00000507379.5:c.1902C>G	ENSP00000423224.1:p.His634Gln
ENST00000508376.6:c.1956C>G	ENSP00000427089.2:p.His652Gln
ENST00000508624.5:c.*1278C>G	ENSP00000424265.1:n.*1278C>G
ENST00000512211.6:c.1956C>G	ENSP00000423828.2:p.His652Gln
ENST00000520401.1:c.230+6191C>G
NM_000038.5:c.1956C>G	NP_000029.2:p.His652Gln
NM_001127510.2:c.1956C>G	NP_001120982.1:p.His652Gln
NM_001127511.2:c.1902C>G	NP_001120983.2:p.His634Gln
NM_001354895.1:c.1956C>G	NP_001341824.1:p.His652Gln
NM_001354896.1:c.2010C>G	NP_001341825.1:p.His670Gln
NM_001354897.1:c.1986C>G	NP_001341826.1:p.His662Gln
NM_001354898.1:c.1881C>G	NP_001341827.1:p.His627Gln
NM_001354899.1:c.1872C>G	NP_001341828.1:p.His624Gln
NM_001354900.1:c.1833C>G	NP_001341829.1:p.His611Gln
NM_001354901.1:c.1779C>G	NP_001341830.1:p.His593Gln
NM_001354902.1:c.1683C>G	NP_001341831.1:p.His561Gln
NM_001354903.1:c.1653C>G	NP_001341832.1:p.His551Gln
NM_001354904.1:c.1578C>G	NP_001341833.1:p.His526Gln
NM_001354905.1:c.1476C>G	NP_001341834.1:p.His492Gln
NM_001354906.1:c.1107C>G	NP_001341835.1:p.His369Gln
NM_000038.6:c.1956C>G MANE Select	NP_000029.2:p.His652Gln
NM_001127510.3:c.1956C>G	NP_001120982.1:p.His652Gln
NM_001127511.3:c.1902C>G	NP_001120983.2:p.His634Gln
NM_001354895.2:c.1956C>G	NP_001341824.1:p.His652Gln
NM_001354896.2:c.2010C>G	NP_001341825.1:p.His670Gln
NM_001354897.2:c.1986C>G	NP_001341826.1:p.His662Gln
NM_001354898.2:c.1881C>G	NP_001341827.1:p.His627Gln
NM_001354899.2:c.1872C>G	NP_001341828.1:p.His624Gln
NM_001354900.2:c.1833C>G	NP_001341829.1:p.His611Gln
NM_001354901.2:c.1779C>G	NP_001341830.1:p.His593Gln
NM_001354902.2:c.1683C>G	NP_001341831.1:p.His561Gln
NM_001354903.2:c.1653C>G	NP_001341832.1:p.His551Gln
NM_001354904.2:c.1578C>G	NP_001341833.1:p.His526Gln
NM_001354905.2:c.1476C>G	NP_001341834.1:p.His492Gln
NM_001354906.2:c.1107C>G	NP_001341835.1:p.His369Gln