Canonical Allele Identifier: CA337910

Gene: APC

Linked Data

• ClinVar Variation Id: 216010
• ClinVar RCV Id: RCV000775125 ; RCV003337243
• dbSNP Id: rs863224455
• MyVariant Identifiers: chr5:g.112154801C>T (hg19) ; chr5:g.112819104C>T (hg38)
• PubMed: PMID:10094547 ; PMID:19531215

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112819104C>T , CM000667.2:g.112819104C>T	GRCh38
NC_000005.9:g.112154801C>T , CM000667.1:g.112154801C>T	GRCh37
NC_000005.8:g.112182700C>T	NCBI36
NG_008481.4:g.131584C>T , LRG_130:g.131584C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502371.3:c.1072C>T	ENSP00000484935.2:p.Gln358Ter
ENST00000504915.3:c.1072C>T	ENSP00000473355.2:p.Gln358Ter
ENST00000505084.2:n.1128C>T
ENST00000505350.2:c.*1078C>T	ENSP00000481752.1:n.*1078C>T
ENST00000507379.6:c.1018C>T	ENSP00000423224.2:p.Gln340Ter
ENST00000509732.6:c.1072C>T	ENSP00000426541.2:p.Gln358Ter
ENST00000512211.7:c.1072C>T	ENSP00000423828.3:p.Gln358Ter
ENST00000257430.9:c.1072C>T MANE Select	ENSP00000257430.4:p.Gln358Ter
ENST00000257430.8:c.1072C>T	ENSP00000257430.4:p.Gln358Ter
ENST00000507379.5:c.1018C>T	ENSP00000423224.1:p.Gln340Ter
ENST00000508376.6:c.1072C>T	ENSP00000427089.2:p.Gln358Ter
ENST00000508624.5:c.*394C>T	ENSP00000424265.1:n.*394C>T
ENST00000512211.6:c.1072C>T	ENSP00000423828.2:p.Gln358Ter
NM_000038.5:c.1072C>T	NP_000029.2:p.Gln358Ter
NM_001127510.2:c.1072C>T	NP_001120982.1:p.Gln358Ter
NM_001127511.2:c.1018C>T	NP_001120983.2:p.Gln340Ter
NM_001354895.1:c.1072C>T	NP_001341824.1:p.Gln358Ter
NM_001354896.1:c.1072C>T	NP_001341825.1:p.Gln358Ter
NM_001354897.1:c.1102C>T	NP_001341826.1:p.Gln368Ter
NM_001354898.1:c.997C>T	NP_001341827.1:p.Gln333Ter
NM_001354899.1:c.988C>T	NP_001341828.1:p.Gln330Ter
NM_001354900.1:c.895C>T	NP_001341829.1:p.Gln299Ter
NM_001354901.1:c.895C>T	NP_001341830.1:p.Gln299Ter
NM_001354902.1:c.964-165C>T	NP_001341831.1:n.964-165C>T
NM_001354903.1:c.934-165C>T	NP_001341832.1:n.934-165C>T
NM_001354904.1:c.859-165C>T	NP_001341833.1:n.859-165C>T
NM_001354905.1:c.757-165C>T	NP_001341834.1:n.757-165C>T
NM_001354906.1:c.223C>T	NP_001341835.1:p.Gln75Ter
NM_000038.6:c.1072C>T MANE Select	NP_000029.2:p.Gln358Ter
NM_001127510.3:c.1072C>T	NP_001120982.1:p.Gln358Ter
NM_001127511.3:c.1018C>T	NP_001120983.2:p.Gln340Ter
NM_001354895.2:c.1072C>T	NP_001341824.1:p.Gln358Ter
NM_001354896.2:c.1072C>T	NP_001341825.1:p.Gln358Ter
NM_001354897.2:c.1102C>T	NP_001341826.1:p.Gln368Ter
NM_001354898.2:c.997C>T	NP_001341827.1:p.Gln333Ter
NM_001354899.2:c.988C>T	NP_001341828.1:p.Gln330Ter
NM_001354900.2:c.895C>T	NP_001341829.1:p.Gln299Ter
NM_001354901.2:c.895C>T	NP_001341830.1:p.Gln299Ter
NM_001354902.2:c.964-165C>T	NP_001341831.1:n.964-165C>T
NM_001354903.2:c.934-165C>T	NP_001341832.1:n.934-165C>T
NM_001354904.2:c.859-165C>T	NP_001341833.1:n.859-165C>T
NM_001354905.2:c.757-165C>T	NP_001341834.1:n.757-165C>T
NM_001354906.2:c.223C>T	NP_001341835.1:p.Gln75Ter