Canonical Allele Identifier: CA16616971
Gene: POGZ HGNC NCBI

Linked Data

ClinVar Variation Id: 421946
ClinVar RCV Id: RCV000482694
dbSNP Id: rs1064795463

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.151408493G>A , CM000663.2:g.151408493G>A GRCh38
NC_000001.10:g.151380969G>A , CM000663.1:g.151380969G>A GRCh37
NC_000001.9:g.149647593G>A NCBI36
NG_046601.1:g.55973C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000710270.1:c.2198C>T ENSP00000518163.1:p.Pro733Leu
ENST00000392723.6:c.1991C>T ENSP00000376484.1:p.Pro664Leu
ENST00000439756.2:c.2150C>T ENSP00000390156.2:p.Pro717Leu
ENST00000703168.1:c.2171C>T ENSP00000515214.1:p.Pro724Leu
ENST00000271715.7:c.2150C>T MANE Select ENSP00000271715.2:p.Pro717Leu
ENST00000271715.6:c.2150C>T ENSP00000271715.2:p.Pro717Leu
ENST00000358476.7:n.2019C>T
ENST00000368863.6:c.1865C>T ENSP00000357856.2:p.Pro622Leu
ENST00000392723.5:c.1991C>T ENSP00000376484.1:p.Pro664Leu
ENST00000409503.5:c.2123C>T ENSP00000386836.1:p.Pro708Leu
ENST00000491586.5:c.2018C>T ENSP00000418408.1:p.Pro673Leu
ENST00000492528.1:n.61C>T
ENST00000529669.1:c.350C>T ENSP00000432295.1:p.Pro117Leu
ENST00000531094.5:c.1964C>T ENSP00000431259.1:p.Pro655Leu
NM_001194937.1:c.2123C>T NP_001181866.1:p.Pro708Leu
NM_001194938.1:c.1964C>T NP_001181867.1:p.Pro655Leu
NM_015100.3:c.2150C>T NP_055915.2:p.Pro717Leu
NM_145796.3:c.1865C>T NP_665739.3:p.Pro622Leu
NM_207171.2:c.1991C>T NP_997054.1:p.Pro664Leu
XM_005244999.1:c.2150C>T XP_005245056.1:p.Pro717Leu
XM_005245000.3:c.2150C>T XP_005245057.1:p.Pro717Leu
XM_005245001.1:c.2150C>T XP_005245058.1:p.Pro717Leu
XM_005245005.1:c.1991C>T XP_005245062.1:p.Pro664Leu
XM_005245006.3:c.1991C>T XP_005245063.1:p.Pro664Leu
XM_011509330.1:c.2042C>T XP_011507632.1:p.Pro681Leu
XM_011509331.1:c.1793C>T XP_011507633.1:p.Pro598Leu
XR_921760.1:n.2062+201C>T
XM_005244999.3:c.2150C>T XP_005245056.1:p.Pro717Leu
XM_005245000.4:c.2150C>T XP_005245057.1:p.Pro717Leu
XM_005245001.2:c.2150C>T XP_005245058.1:p.Pro717Leu
XM_005245005.2:c.1991C>T XP_005245062.1:p.Pro664Leu
XM_005245006.5:c.1991C>T XP_005245063.1:p.Pro664Leu
XM_017000744.1:c.2171C>T XP_016856233.1:p.Pro724Leu
XM_017000745.2:c.2123C>T XP_016856234.1:p.Pro708Leu
XM_017000746.1:c.2123C>T XP_016856235.1:p.Pro708Leu
XM_017000748.1:c.1991C>T XP_016856237.1:p.Pro664Leu
XM_017000749.1:c.1991C>T XP_016856238.1:p.Pro664Leu
XM_024454305.1:c.2024C>T XP_024310073.1:p.Pro675Leu
XM_024454306.1:c.950C>T XP_024310074.1:p.Pro317Leu
XR_002959801.1:n.2089+201C>T
NM_015100.4:c.2150C>T MANE Select NP_055915.2:p.Pro717Leu
NM_001194937.2:c.2123C>T NP_001181866.1:p.Pro708Leu
NM_001194938.2:c.1964C>T NP_001181867.1:p.Pro655Leu
NM_145796.4:c.1865C>T NP_665739.3:p.Pro622Leu