Canonical Allele Identifier: CA341981960

Gene: POGZ

Linked Data

• MyVariant Identifiers: chr1:g.151403159T>G (hg19) ; chr1:g.151430683T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.151430683T>G , CM000663.2:g.151430683T>G	GRCh38
NC_000001.10:g.151403159T>G , CM000663.1:g.151403159T>G	GRCh37
NC_000001.9:g.149669783T>G	NCBI36
NG_046601.1:g.33783A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710270.1:c.490A>C	ENSP00000518163.1:p.Ile164Leu
ENST00000392723.6:c.283A>C	ENSP00000376484.1:p.Ile95Leu
ENST00000439756.2:c.442A>C	ENSP00000390156.2:p.Ile148Leu
ENST00000703168.1:c.463A>C	ENSP00000515214.1:p.Ile155Leu
ENST00000703169.1:c.442A>C	ENSP00000515215.1:p.Ile148Leu
ENST00000271715.7:c.442A>C MANE Select	ENSP00000271715.2:p.Ile148Leu
ENST00000271715.6:c.442A>C	ENSP00000271715.2:p.Ile148Leu
ENST00000358476.7:n.311A>C
ENST00000368863.6:c.284-2270A>C	ENSP00000357856.2:n.284-2270A>C
ENST00000392723.5:c.283A>C	ENSP00000376484.1:p.Ile95Leu
ENST00000409503.5:c.442A>C	ENSP00000386836.1:p.Ile148Leu
ENST00000467287.5:n.320A>C
ENST00000485040.5:n.471A>C
ENST00000491586.5:c.283A>C	ENSP00000418408.1:p.Ile95Leu
ENST00000531094.5:c.283A>C	ENSP00000431259.1:p.Ile95Leu
ENST00000533461.5:c.442A>C	ENSP00000433934.1:p.Ile148Leu
NM_001194937.1:c.442A>C	NP_001181866.1:p.Ile148Leu
NM_001194938.1:c.283A>C	NP_001181867.1:p.Ile95Leu
NM_015100.3:c.442A>C	NP_055915.2:p.Ile148Leu
NM_145796.3:c.284-2270A>C	NP_665739.3:n.284-2270A>C
NM_207171.2:c.283A>C	NP_997054.1:p.Ile95Leu
XM_005244999.1:c.442A>C	XP_005245056.1:p.Ile148Leu
XM_005245000.3:c.442A>C	XP_005245057.1:p.Ile148Leu
XM_005245001.1:c.442A>C	XP_005245058.1:p.Ile148Leu
XM_005245005.1:c.283A>C	XP_005245062.1:p.Ile95Leu
XM_005245006.3:c.283A>C	XP_005245063.1:p.Ile95Leu
XM_011509330.1:c.334A>C	XP_011507632.1:p.Ile112Leu
XM_011509331.1:c.85A>C	XP_011507633.1:p.Ile29Leu
XR_921760.1:n.443A>C
XM_005244999.3:c.442A>C	XP_005245056.1:p.Ile148Leu
XM_005245000.4:c.442A>C	XP_005245057.1:p.Ile148Leu
XM_005245001.2:c.442A>C	XP_005245058.1:p.Ile148Leu
XM_005245005.2:c.283A>C	XP_005245062.1:p.Ile95Leu
XM_005245006.5:c.283A>C	XP_005245063.1:p.Ile95Leu
XM_017000744.1:c.463A>C	XP_016856233.1:p.Ile155Leu
XM_017000745.2:c.442A>C	XP_016856234.1:p.Ile148Leu
XM_017000746.1:c.442A>C	XP_016856235.1:p.Ile148Leu
XM_017000748.1:c.283A>C	XP_016856237.1:p.Ile95Leu
XM_017000749.1:c.283A>C	XP_016856238.1:p.Ile95Leu
XM_024454305.1:c.463A>C	XP_024310073.1:p.Ile155Leu
XM_024454306.1:c.-1841A>C	XP_024310074.1:n.-1841A>C
XR_002959801.1:n.470A>C
NM_015100.4:c.442A>C MANE Select	NP_055915.2:p.Ile148Leu
NM_001194937.2:c.442A>C	NP_001181866.1:p.Ile148Leu
NM_001194938.2:c.283A>C	NP_001181867.1:p.Ile95Leu
NM_145796.4:c.284-2270A>C	NP_665739.3:n.284-2270A>C