Canonical Allele Identifier: CA386960821

Gene: ANAPC5

Linked Data

• dbSNP Id: rs1425256243
• gnomAD v2: 12-121756335-G-T
• gnomAD v4: 12-121318532-G-T
• MyVariant Identifiers: chr12:g.121756335G>T (hg19) ; chr12:g.121318532G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.121318532G>T , CM000674.2:g.121318532G>T	GRCh38
NC_000012.11:g.121756335G>T , CM000674.1:g.121756335G>T	GRCh37
NC_000012.10:g.120240718G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261819.8:c.1714C>A MANE Select	ENSP00000261819.3:p.Gln572Lys
ENST00000261819.7:c.1714C>A	ENSP00000261819.3:p.Gln572Lys
ENST00000441917.6:c.1378C>A	ENSP00000415061.2:p.Gln460Lys
ENST00000534976.5:n.2370C>A
ENST00000535482.1:c.712C>A	ENSP00000438754.1:p.Gln238Lys
ENST00000535641.5:n.1925C>A
ENST00000539079.5:c.1058C>A
ENST00000541887.5:c.1675C>A	ENSP00000439875.1:p.Gln559Lys
ENST00000544314.5:n.832C>A
ENST00000545218.5:n.957C>A
NM_001137559.1:c.1378C>A	NP_001131031.1:p.Gln460Lys
NM_016237.4:c.1714C>A	NP_057321.2:p.Gln572Lys
XM_005253900.2:c.1675C>A	XP_005253957.1:p.Gln559Lys
XM_006719449.1:c.520C>A	XP_006719512.1:p.Gln174Lys
NM_001330489.1:c.1675C>A	NP_001317418.1:p.Gln559Lys
XM_017019423.2:c.520C>A	XP_016874912.1:p.Gln174Lys
XM_017019424.2:c.520C>A	XP_016874913.1:p.Gln174Lys
NM_016237.5:c.1714C>A MANE Select	NP_057321.2:p.Gln572Lys
NM_001330489.2:c.1675C>A	NP_001317418.1:p.Gln559Lys