Canonical Allele Identifier: CA16024229

Gene: APC

Linked Data

• ClinVar Variation Id: 1316460
• ClinVar RCV Id: RCV001774832 ; RCV003772073
• dbSNP Id: rs1763171856
• MyVariant Identifiers: chr5:g.112157616A>C (hg19) ; chr5:g.112821919A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112821919A>C , CM000667.2:g.112821919A>C	GRCh38
NC_000005.9:g.112157616A>C , CM000667.1:g.112157616A>C	GRCh37
NC_000005.8:g.112185515A>C	NCBI36
NG_008481.4:g.134399A>C , LRG_130:g.134399A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502371.3:c.1336A>C	ENSP00000484935.2:p.Ile446Leu
ENST00000504915.3:c.1336A>C	ENSP00000473355.2:p.Ile446Leu
ENST00000505084.2:n.1392A>C
ENST00000505350.2:c.*1342A>C	ENSP00000481752.1:n.*1342A>C
ENST00000507379.6:c.1282A>C	ENSP00000423224.2:p.Ile428Leu
ENST00000509732.6:c.1336A>C	ENSP00000426541.2:p.Ile446Leu
ENST00000512211.7:c.1336A>C	ENSP00000423828.3:p.Ile446Leu
ENST00000257430.9:c.1336A>C MANE Select	ENSP00000257430.4:p.Ile446Leu
ENST00000257430.8:c.1336A>C	ENSP00000257430.4:p.Ile446Leu
ENST00000502371.2:c.24A>C
ENST00000507379.5:c.1282A>C	ENSP00000423224.1:p.Ile428Leu
ENST00000508376.6:c.1336A>C	ENSP00000427089.2:p.Ile446Leu
ENST00000508624.5:c.*658A>C	ENSP00000424265.1:n.*658A>C
ENST00000512211.6:c.1336A>C	ENSP00000423828.2:p.Ile446Leu
NM_000038.5:c.1336A>C	NP_000029.2:p.Ile446Leu
NM_001127510.2:c.1336A>C	NP_001120982.1:p.Ile446Leu
NM_001127511.2:c.1282A>C	NP_001120983.2:p.Ile428Leu
NM_001354895.1:c.1336A>C	NP_001341824.1:p.Ile446Leu
NM_001354896.1:c.1336A>C	NP_001341825.1:p.Ile446Leu
NM_001354897.1:c.1366A>C	NP_001341826.1:p.Ile456Leu
NM_001354898.1:c.1261A>C	NP_001341827.1:p.Ile421Leu
NM_001354899.1:c.1252A>C	NP_001341828.1:p.Ile418Leu
NM_001354900.1:c.1159A>C	NP_001341829.1:p.Ile387Leu
NM_001354901.1:c.1159A>C	NP_001341830.1:p.Ile387Leu
NM_001354902.1:c.1063A>C	NP_001341831.1:p.Ile355Leu
NM_001354903.1:c.1033A>C	NP_001341832.1:p.Ile345Leu
NM_001354904.1:c.958A>C	NP_001341833.1:p.Ile320Leu
NM_001354905.1:c.856A>C	NP_001341834.1:p.Ile286Leu
NM_001354906.1:c.487A>C	NP_001341835.1:p.Ile163Leu
NM_000038.6:c.1336A>C MANE Select	NP_000029.2:p.Ile446Leu
NM_001127510.3:c.1336A>C	NP_001120982.1:p.Ile446Leu
NM_001127511.3:c.1282A>C	NP_001120983.2:p.Ile428Leu
NM_001354895.2:c.1336A>C	NP_001341824.1:p.Ile446Leu
NM_001354896.2:c.1336A>C	NP_001341825.1:p.Ile446Leu
NM_001354897.2:c.1366A>C	NP_001341826.1:p.Ile456Leu
NM_001354898.2:c.1261A>C	NP_001341827.1:p.Ile421Leu
NM_001354899.2:c.1252A>C	NP_001341828.1:p.Ile418Leu
NM_001354900.2:c.1159A>C	NP_001341829.1:p.Ile387Leu
NM_001354901.2:c.1159A>C	NP_001341830.1:p.Ile387Leu
NM_001354902.2:c.1063A>C	NP_001341831.1:p.Ile355Leu
NM_001354903.2:c.1033A>C	NP_001341832.1:p.Ile345Leu
NM_001354904.2:c.958A>C	NP_001341833.1:p.Ile320Leu
NM_001354905.2:c.856A>C	NP_001341834.1:p.Ile286Leu
NM_001354906.2:c.487A>C	NP_001341835.1:p.Ile163Leu