Canonical Allele Identifier: CA386960367

Gene: ANAPC5

Linked Data

• dbSNP Id: rs1312185714
• gnomAD v2: 12-121756204-A-G
• gnomAD v4: 12-121318401-A-G
• MyVariant Identifiers: chr12:g.121756204A>G (hg19) ; chr12:g.121318401A>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261819.8:c.1769T>C MANE Select	ENSP00000261819.3:p.Leu590Pro
ENST00000261819.7:c.1769T>C	ENSP00000261819.3:p.Leu590Pro
ENST00000441917.6:c.1433T>C	ENSP00000415061.2:p.Leu478Pro
ENST00000534976.5:n.2501T>C
ENST00000535482.1:c.767T>C	ENSP00000438754.1:p.Leu256Pro
ENST00000535641.5:n.1980T>C
ENST00000539079.5:c.1093T>C
ENST00000541887.5:c.1730T>C	ENSP00000439875.1:p.Leu577Pro
ENST00000544314.5:n.887T>C
ENST00000545218.5:n.989-50T>C
NM_001137559.1:c.1433T>C	NP_001131031.1:p.Leu478Pro
NM_016237.4:c.1769T>C	NP_057321.2:p.Leu590Pro
XM_005253900.2:c.1730T>C	XP_005253957.1:p.Leu577Pro
XM_006719449.1:c.575T>C	XP_006719512.1:p.Leu192Pro
NM_001330489.1:c.1730T>C	NP_001317418.1:p.Leu577Pro
XM_017019423.2:c.575T>C	XP_016874912.1:p.Leu192Pro
XM_017019424.2:c.575T>C	XP_016874913.1:p.Leu192Pro
NM_016237.5:c.1769T>C MANE Select	NP_057321.2:p.Leu590Pro
NM_001330489.2:c.1730T>C	NP_001317418.1:p.Leu577Pro