Canonical Allele Identifier: CA9970691
Community Standard Title: NM_020713.3(ZNF512B):c.2585C>T (p.Pro862Leu)
Gene: ZNF512B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.63959982G>A , CM000682.2:g.63959982G>A GRCh38
NC_000020.10:g.62591335G>A , CM000682.1:g.62591335G>A GRCh37
NC_000020.9:g.62061779G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_020713.3:c.2585C>T MANE Select NP_065764.1:p.Pro862Leu
ENST00000369888.6:c.2585C>T MANE Select ENSP00000358904.1:p.Pro862Leu
NM_020713.2:c.2585C>T NP_065764.1:p.Pro862Leu
ENST00000217130.4:c.2585C>T ENSP00000217130.3:p.Pro862Leu
ENST00000369888.5:c.2585C>T ENSP00000358904.1:p.Pro862Leu
ENST00000450537.5:c.2585C>T ENSP00000393795.1:p.Pro862Leu
XM_005260226.2:c.2627C>T XP_005260283.1:p.Pro876Leu
XM_011528929.1:c.2585C>T XP_011527231.1:p.Pro862Leu
XM_011528930.1:c.2528C>T XP_011527232.1:p.Pro843Leu
XM_011528930.2:c.2528C>T XP_011527232.1:p.Pro843Leu
XM_011528931.1:c.1595C>T XP_011527233.1:p.Pro532Leu
XM_011528932.1:c.1592C>T XP_011527234.1:p.Pro531Leu
XM_024451950.1:c.3161C>T XP_024307718.1:p.Pro1054Leu
XM_024451951.1:c.3119C>T XP_024307719.1:p.Pro1040Leu
XM_024451952.1:c.3119C>T XP_024307720.1:p.Pro1040Leu
XM_024451953.1:c.2627C>T XP_024307721.1:p.Pro876Leu
XM_024451954.1:c.2129C>T XP_024307722.1:p.Pro710Leu
XM_024451955.1:c.2126C>T XP_024307723.1:p.Pro709Leu