Canonical Allele Identifier: CA16023976

Gene: APC

Linked Data

• ClinVar Variation Id: 2006850
• ClinVar RCV Id: RCV003742912
• dbSNP Id: rs2149782715
• MyVariant Identifiers: chr5:g.112154951C>T (hg19) ; chr5:g.112819254C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112819254C>T , CM000667.2:g.112819254C>T	GRCh38
NC_000005.9:g.112154951C>T , CM000667.1:g.112154951C>T	GRCh37
NC_000005.8:g.112182850C>T	NCBI36
NG_008481.4:g.131734C>T , LRG_130:g.131734C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502371.3:c.1222C>T	ENSP00000484935.2:p.His408Tyr
ENST00000504915.3:c.1222C>T	ENSP00000473355.2:p.His408Tyr
ENST00000505084.2:n.1278C>T
ENST00000505350.2:c.*1228C>T	ENSP00000481752.1:n.*1228C>T
ENST00000507379.6:c.1168C>T	ENSP00000423224.2:p.His390Tyr
ENST00000509732.6:c.1222C>T	ENSP00000426541.2:p.His408Tyr
ENST00000512211.7:c.1222C>T	ENSP00000423828.3:p.His408Tyr
ENST00000257430.9:c.1222C>T MANE Select	ENSP00000257430.4:p.His408Tyr
ENST00000257430.8:c.1222C>T	ENSP00000257430.4:p.His408Tyr
ENST00000507379.5:c.1168C>T	ENSP00000423224.1:p.His390Tyr
ENST00000508376.6:c.1222C>T	ENSP00000427089.2:p.His408Tyr
ENST00000508624.5:c.*544C>T	ENSP00000424265.1:n.*544C>T
ENST00000512211.6:c.1222C>T	ENSP00000423828.2:p.His408Tyr
NM_000038.5:c.1222C>T	NP_000029.2:p.His408Tyr
NM_001127510.2:c.1222C>T	NP_001120982.1:p.His408Tyr
NM_001127511.2:c.1168C>T	NP_001120983.2:p.His390Tyr
NM_001354895.1:c.1222C>T	NP_001341824.1:p.His408Tyr
NM_001354896.1:c.1222C>T	NP_001341825.1:p.His408Tyr
NM_001354897.1:c.1252C>T	NP_001341826.1:p.His418Tyr
NM_001354898.1:c.1147C>T	NP_001341827.1:p.His383Tyr
NM_001354899.1:c.1138C>T	NP_001341828.1:p.His380Tyr
NM_001354900.1:c.1045C>T	NP_001341829.1:p.His349Tyr
NM_001354901.1:c.1045C>T	NP_001341830.1:p.His349Tyr
NM_001354902.1:c.964-15C>T	NP_001341831.1:n.964-15C>T
NM_001354903.1:c.934-15C>T	NP_001341832.1:n.934-15C>T
NM_001354904.1:c.859-15C>T	NP_001341833.1:n.859-15C>T
NM_001354905.1:c.757-15C>T	NP_001341834.1:n.757-15C>T
NM_001354906.1:c.373C>T	NP_001341835.1:p.His125Tyr
NM_000038.6:c.1222C>T MANE Select	NP_000029.2:p.His408Tyr
NM_001127510.3:c.1222C>T	NP_001120982.1:p.His408Tyr
NM_001127511.3:c.1168C>T	NP_001120983.2:p.His390Tyr
NM_001354895.2:c.1222C>T	NP_001341824.1:p.His408Tyr
NM_001354896.2:c.1222C>T	NP_001341825.1:p.His408Tyr
NM_001354897.2:c.1252C>T	NP_001341826.1:p.His418Tyr
NM_001354898.2:c.1147C>T	NP_001341827.1:p.His383Tyr
NM_001354899.2:c.1138C>T	NP_001341828.1:p.His380Tyr
NM_001354900.2:c.1045C>T	NP_001341829.1:p.His349Tyr
NM_001354901.2:c.1045C>T	NP_001341830.1:p.His349Tyr
NM_001354902.2:c.964-15C>T	NP_001341831.1:n.964-15C>T
NM_001354903.2:c.934-15C>T	NP_001341832.1:n.934-15C>T
NM_001354904.2:c.859-15C>T	NP_001341833.1:n.859-15C>T
NM_001354905.2:c.757-15C>T	NP_001341834.1:n.757-15C>T
NM_001354906.2:c.373C>T	NP_001341835.1:p.His125Tyr