Canonical Allele Identifier: CA341982346

Gene: POGZ

Linked Data

• gnomAD v4: 1-151430740-C-A
• MyVariant Identifiers: chr1:g.151403216C>A (hg19) ; chr1:g.151430740C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.151430740C>A , CM000663.2:g.151430740C>A	GRCh38
NC_000001.10:g.151403216C>A , CM000663.1:g.151403216C>A	GRCh37
NC_000001.9:g.149669840C>A	NCBI36
NG_046601.1:g.33726G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710270.1:c.433G>T	ENSP00000518163.1:p.Val145Phe
ENST00000392723.6:c.226G>T	ENSP00000376484.1:p.Val76Phe
ENST00000439756.2:c.385G>T	ENSP00000390156.2:p.Val129Phe
ENST00000703168.1:c.406G>T	ENSP00000515214.1:p.Val136Phe
ENST00000703169.1:c.385G>T	ENSP00000515215.1:p.Val129Phe
ENST00000271715.7:c.385G>T MANE Select	ENSP00000271715.2:p.Val129Phe
ENST00000271715.6:c.385G>T	ENSP00000271715.2:p.Val129Phe
ENST00000358476.7:n.254G>T
ENST00000368863.6:c.284-2327G>T	ENSP00000357856.2:n.284-2327G>T
ENST00000392723.5:c.226G>T	ENSP00000376484.1:p.Val76Phe
ENST00000409503.5:c.385G>T	ENSP00000386836.1:p.Val129Phe
ENST00000450842.1:c.226G>T	ENSP00000395332.1:p.Val76Phe
ENST00000467287.5:n.263G>T
ENST00000485040.5:n.414G>T
ENST00000491586.5:c.226G>T	ENSP00000418408.1:p.Val76Phe
ENST00000531094.5:c.226G>T	ENSP00000431259.1:p.Val76Phe
ENST00000533351.5:c.385G>T	ENSP00000433637.1:p.Val129Phe
ENST00000533461.5:c.385G>T	ENSP00000433934.1:p.Val129Phe
NM_001194937.1:c.385G>T	NP_001181866.1:p.Val129Phe
NM_001194938.1:c.226G>T	NP_001181867.1:p.Val76Phe
NM_015100.3:c.385G>T	NP_055915.2:p.Val129Phe
NM_145796.3:c.284-2327G>T	NP_665739.3:n.284-2327G>T
NM_207171.2:c.226G>T	NP_997054.1:p.Val76Phe
XM_005244999.1:c.385G>T	XP_005245056.1:p.Val129Phe
XM_005245000.3:c.385G>T	XP_005245057.1:p.Val129Phe
XM_005245001.1:c.385G>T	XP_005245058.1:p.Val129Phe
XM_005245005.1:c.226G>T	XP_005245062.1:p.Val76Phe
XM_005245006.3:c.226G>T	XP_005245063.1:p.Val76Phe
XM_011509330.1:c.277G>T	XP_011507632.1:p.Val93Phe
XM_011509331.1:c.28G>T	XP_011507633.1:p.Val10Phe
XR_921760.1:n.386G>T
XM_005244999.3:c.385G>T	XP_005245056.1:p.Val129Phe
XM_005245000.4:c.385G>T	XP_005245057.1:p.Val129Phe
XM_005245001.2:c.385G>T	XP_005245058.1:p.Val129Phe
XM_005245005.2:c.226G>T	XP_005245062.1:p.Val76Phe
XM_005245006.5:c.226G>T	XP_005245063.1:p.Val76Phe
XM_017000744.1:c.406G>T	XP_016856233.1:p.Val136Phe
XM_017000745.2:c.385G>T	XP_016856234.1:p.Val129Phe
XM_017000746.1:c.385G>T	XP_016856235.1:p.Val129Phe
XM_017000748.1:c.226G>T	XP_016856237.1:p.Val76Phe
XM_017000749.1:c.226G>T	XP_016856238.1:p.Val76Phe
XM_024454305.1:c.406G>T	XP_024310073.1:p.Val136Phe
XM_024454306.1:c.-1898G>T	XP_024310074.1:n.-1898G>T
XR_002959801.1:n.413G>T
NM_015100.4:c.385G>T MANE Select	NP_055915.2:p.Val129Phe
NM_001194937.2:c.385G>T	NP_001181866.1:p.Val129Phe
NM_001194938.2:c.226G>T	NP_001181867.1:p.Val76Phe
NM_145796.4:c.284-2327G>T	NP_665739.3:n.284-2327G>T