Canonical Allele Identifier: CA6835170

Gene: ANAPC5

Linked Data

• dbSNP Id: rs774125294
• ExAC: 12:121756214 C / T
• gnomAD v2: 12-121756214-C-T
• gnomAD v3: 12-121318411-C-T
• gnomAD v4: 12-121318411-C-T
• MyVariant Identifiers: chr12:g.121756214C>T (hg19) ; chr12:g.121318411C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.121318411C>T , CM000674.2:g.121318411C>T	GRCh38
NC_000012.11:g.121756214C>T , CM000674.1:g.121756214C>T	GRCh37
NC_000012.10:g.120240597C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261819.8:c.1759G>A MANE Select	ENSP00000261819.3:p.Val587Met
ENST00000261819.7:c.1759G>A	ENSP00000261819.3:p.Val587Met
ENST00000441917.6:c.1423G>A	ENSP00000415061.2:p.Val475Met
ENST00000534976.5:n.2491G>A
ENST00000535482.1:c.757G>A	ENSP00000438754.1:p.Val253Met
ENST00000535641.5:n.1970G>A
ENST00000539079.5:c.1090-7G>A
ENST00000541887.5:c.1720G>A	ENSP00000439875.1:p.Val574Met
ENST00000544314.5:n.877G>A
ENST00000545218.5:n.989-60G>A
NM_001137559.1:c.1423G>A	NP_001131031.1:p.Val475Met
NM_016237.4:c.1759G>A	NP_057321.2:p.Val587Met
XM_005253900.2:c.1720G>A	XP_005253957.1:p.Val574Met
XM_006719449.1:c.565G>A	XP_006719512.1:p.Val189Met
NM_001330489.1:c.1720G>A	NP_001317418.1:p.Val574Met
XM_017019423.2:c.565G>A	XP_016874912.1:p.Val189Met
XM_017019424.2:c.565G>A	XP_016874913.1:p.Val189Met
NM_016237.5:c.1759G>A MANE Select	NP_057321.2:p.Val587Met
NM_001330489.2:c.1720G>A	NP_001317418.1:p.Val574Met