Canonical Allele Identifier: CA244574793

Gene: ANAPC5

Linked Data

• dbSNP Id: rs550010840
• gnomAD v3: 12-121318380-G-A
• gnomAD v4: 12-121318380-G-A
• MyVariant Identifiers: chr12:g.121756183G>A (hg19) ; chr12:g.121318380G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.121318380G>A , CM000674.2:g.121318380G>A	GRCh38
NC_000012.11:g.121756183G>A , CM000674.1:g.121756183G>A	GRCh37
NC_000012.10:g.120240566G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261819.8:c.1790C>T MANE Select	ENSP00000261819.3:p.Pro597Leu
ENST00000261819.7:c.1790C>T	ENSP00000261819.3:p.Pro597Leu
ENST00000441917.6:c.1454C>T	ENSP00000415061.2:p.Pro485Leu
ENST00000534976.5:n.2522C>T
ENST00000535482.1:c.788C>T	ENSP00000438754.1:p.Pro263Leu
ENST00000535641.5:n.2001C>T
ENST00000539079.5:c.1114C>T
ENST00000541887.5:c.1751C>T	ENSP00000439875.1:p.Pro584Leu
ENST00000544314.5:n.908C>T
ENST00000545218.5:n.989-29C>T
NM_001137559.1:c.1454C>T	NP_001131031.1:p.Pro485Leu
NM_016237.4:c.1790C>T	NP_057321.2:p.Pro597Leu
XM_005253900.2:c.1751C>T	XP_005253957.1:p.Pro584Leu
XM_006719449.1:c.596C>T	XP_006719512.1:p.Pro199Leu
NM_001330489.1:c.1751C>T	NP_001317418.1:p.Pro584Leu
XM_017019423.2:c.596C>T	XP_016874912.1:p.Pro199Leu
XM_017019424.2:c.596C>T	XP_016874913.1:p.Pro199Leu
NM_016237.5:c.1790C>T MANE Select	NP_057321.2:p.Pro597Leu
NM_001330489.2:c.1751C>T	NP_001317418.1:p.Pro584Leu