Canonical Allele Identifier: CA386960453

Gene: ANAPC5

Linked Data

• MyVariant Identifiers: chr12:g.121756222A>T (hg19) ; chr12:g.121318419A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.121318419A>T , CM000674.2:g.121318419A>T	GRCh38
NC_000012.11:g.121756222A>T , CM000674.1:g.121756222A>T	GRCh37
NC_000012.10:g.120240605A>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261819.8:c.1751T>A MANE Select	ENSP00000261819.3:p.Leu584Gln
ENST00000261819.7:c.1751T>A	ENSP00000261819.3:p.Leu584Gln
ENST00000441917.6:c.1415T>A	ENSP00000415061.2:p.Leu472Gln
ENST00000534976.5:n.2483T>A
ENST00000535482.1:c.749T>A	ENSP00000438754.1:p.Leu250Gln
ENST00000535641.5:n.1962T>A
ENST00000539079.5:c.1090-15T>A
ENST00000541887.5:c.1712T>A	ENSP00000439875.1:p.Leu571Gln
ENST00000544314.5:n.869T>A
ENST00000545218.5:n.989-68T>A
NM_001137559.1:c.1415T>A	NP_001131031.1:p.Leu472Gln
NM_016237.4:c.1751T>A	NP_057321.2:p.Leu584Gln
XM_005253900.2:c.1712T>A	XP_005253957.1:p.Leu571Gln
XM_006719449.1:c.557T>A	XP_006719512.1:p.Leu186Gln
NM_001330489.1:c.1712T>A	NP_001317418.1:p.Leu571Gln
XM_017019423.2:c.557T>A	XP_016874912.1:p.Leu186Gln
XM_017019424.2:c.557T>A	XP_016874913.1:p.Leu186Gln
NM_016237.5:c.1751T>A MANE Select	NP_057321.2:p.Leu584Gln
NM_001330489.2:c.1712T>A	NP_001317418.1:p.Leu571Gln