Canonical Allele Identifier: CA386960368

Gene: ANAPC5

Linked Data

• MyVariant Identifiers: chr12:g.121756204A>T (hg19) ; chr12:g.121318401A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.121318401A>T , CM000674.2:g.121318401A>T	GRCh38
NC_000012.11:g.121756204A>T , CM000674.1:g.121756204A>T	GRCh37
NC_000012.10:g.120240587A>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261819.8:c.1769T>A MANE Select	ENSP00000261819.3:p.Leu590Gln
ENST00000261819.7:c.1769T>A	ENSP00000261819.3:p.Leu590Gln
ENST00000441917.6:c.1433T>A	ENSP00000415061.2:p.Leu478Gln
ENST00000534976.5:n.2501T>A
ENST00000535482.1:c.767T>A	ENSP00000438754.1:p.Leu256Gln
ENST00000535641.5:n.1980T>A
ENST00000539079.5:c.1093T>A
ENST00000541887.5:c.1730T>A	ENSP00000439875.1:p.Leu577Gln
ENST00000544314.5:n.887T>A
ENST00000545218.5:n.989-50T>A
NM_001137559.1:c.1433T>A	NP_001131031.1:p.Leu478Gln
NM_016237.4:c.1769T>A	NP_057321.2:p.Leu590Gln
XM_005253900.2:c.1730T>A	XP_005253957.1:p.Leu577Gln
XM_006719449.1:c.575T>A	XP_006719512.1:p.Leu192Gln
NM_001330489.1:c.1730T>A	NP_001317418.1:p.Leu577Gln
XM_017019423.2:c.575T>A	XP_016874912.1:p.Leu192Gln
XM_017019424.2:c.575T>A	XP_016874913.1:p.Leu192Gln
NM_016237.5:c.1769T>A MANE Select	NP_057321.2:p.Leu590Gln
NM_001330489.2:c.1730T>A	NP_001317418.1:p.Leu577Gln