Canonical Allele Identifier: CA386960738

Gene: ANAPC5

Linked Data

• gnomAD v4: 12-121318525-A-G
• MyVariant Identifiers: chr12:g.121756328A>G (hg19) ; chr12:g.121318525A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.121318525A>G , CM000674.2:g.121318525A>G	GRCh38
NC_000012.11:g.121756328A>G , CM000674.1:g.121756328A>G	GRCh37
NC_000012.10:g.120240711A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261819.8:c.1721T>C MANE Select	ENSP00000261819.3:p.Leu574Pro
ENST00000261819.7:c.1721T>C	ENSP00000261819.3:p.Leu574Pro
ENST00000441917.6:c.1385T>C	ENSP00000415061.2:p.Leu462Pro
ENST00000534976.5:n.2377T>C
ENST00000535482.1:c.719T>C	ENSP00000438754.1:p.Leu240Pro
ENST00000535641.5:n.1932T>C
ENST00000539079.5:c.1065T>C
ENST00000541887.5:c.1682T>C	ENSP00000439875.1:p.Leu561Pro
ENST00000544314.5:n.839T>C
ENST00000545218.5:n.964T>C
NM_001137559.1:c.1385T>C	NP_001131031.1:p.Leu462Pro
NM_016237.4:c.1721T>C	NP_057321.2:p.Leu574Pro
XM_005253900.2:c.1682T>C	XP_005253957.1:p.Leu561Pro
XM_006719449.1:c.527T>C	XP_006719512.1:p.Leu176Pro
NM_001330489.1:c.1682T>C	NP_001317418.1:p.Leu561Pro
XM_017019423.2:c.527T>C	XP_016874912.1:p.Leu176Pro
XM_017019424.2:c.527T>C	XP_016874913.1:p.Leu176Pro
NM_016237.5:c.1721T>C MANE Select	NP_057321.2:p.Leu574Pro
NM_001330489.2:c.1682T>C	NP_001317418.1:p.Leu561Pro