Canonical Allele Identifier: CA386960778

Gene: ANAPC5

Linked Data

• gnomAD v4: 12-121318528-T-G
• MyVariant Identifiers: chr12:g.121756331T>G (hg19) ; chr12:g.121318528T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.121318528T>G , CM000674.2:g.121318528T>G	GRCh38
NC_000012.11:g.121756331T>G , CM000674.1:g.121756331T>G	GRCh37
NC_000012.10:g.120240714T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261819.8:c.1718A>C MANE Select	ENSP00000261819.3:p.Lys573Thr
ENST00000261819.7:c.1718A>C	ENSP00000261819.3:p.Lys573Thr
ENST00000441917.6:c.1382A>C	ENSP00000415061.2:p.Lys461Thr
ENST00000534976.5:n.2374A>C
ENST00000535482.1:c.716A>C	ENSP00000438754.1:p.Lys239Thr
ENST00000535641.5:n.1929A>C
ENST00000539079.5:c.1062A>C
ENST00000541887.5:c.1679A>C	ENSP00000439875.1:p.Lys560Thr
ENST00000544314.5:n.836A>C
ENST00000545218.5:n.961A>C
NM_001137559.1:c.1382A>C	NP_001131031.1:p.Lys461Thr
NM_016237.4:c.1718A>C	NP_057321.2:p.Lys573Thr
XM_005253900.2:c.1679A>C	XP_005253957.1:p.Lys560Thr
XM_006719449.1:c.524A>C	XP_006719512.1:p.Lys175Thr
NM_001330489.1:c.1679A>C	NP_001317418.1:p.Lys560Thr
XM_017019423.2:c.524A>C	XP_016874912.1:p.Lys175Thr
XM_017019424.2:c.524A>C	XP_016874913.1:p.Lys175Thr
NM_016237.5:c.1718A>C MANE Select	NP_057321.2:p.Lys573Thr
NM_001330489.2:c.1679A>C	NP_001317418.1:p.Lys560Thr