Canonical Allele Identifier: CA341949264

Gene: POGZ

Linked Data

• dbSNP Id: rs1557867690
• gnomAD v4: 1-151406307-A-C
• MyVariant Identifiers: chr1:g.151378783A>C (hg19) ; chr1:g.151406307A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.151406307A>C , CM000663.2:g.151406307A>C	GRCh38
NC_000001.10:g.151378783A>C , CM000663.1:g.151378783A>C	GRCh37
NC_000001.9:g.149645407A>C	NCBI36
NG_046601.1:g.58159T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710270.1:c.2776T>G	ENSP00000518163.1:p.Ser926Ala
ENST00000392723.6:c.2569T>G	ENSP00000376484.1:p.Ser857Ala
ENST00000439756.2:c.2728T>G	ENSP00000390156.2:p.Ser910Ala
ENST00000703168.1:c.2749T>G	ENSP00000515214.1:p.Ser917Ala
ENST00000271715.7:c.2728T>G MANE Select	ENSP00000271715.2:p.Ser910Ala
ENST00000271715.6:c.2728T>G	ENSP00000271715.2:p.Ser910Ala
ENST00000358476.7:n.2876T>G
ENST00000368863.6:c.2443T>G	ENSP00000357856.2:p.Ser815Ala
ENST00000392723.5:c.2569T>G	ENSP00000376484.1:p.Ser857Ala
ENST00000409503.5:c.2701T>G	ENSP00000386836.1:p.Ser901Ala
ENST00000491586.5:c.2596T>G	ENSP00000418408.1:p.Ser866Ala
ENST00000529669.1:c.928T>G	ENSP00000432295.1:p.Ser310Ala
ENST00000531094.5:c.2542T>G	ENSP00000431259.1:p.Ser848Ala
NM_001194937.1:c.2701T>G	NP_001181866.1:p.Ser901Ala
NM_001194938.1:c.2542T>G	NP_001181867.1:p.Ser848Ala
NM_015100.3:c.2728T>G	NP_055915.2:p.Ser910Ala
NM_145796.3:c.2443T>G	NP_665739.3:p.Ser815Ala
NM_207171.2:c.2569T>G	NP_997054.1:p.Ser857Ala
XM_005244999.1:c.2728T>G	XP_005245056.1:p.Ser910Ala
XM_005245000.3:c.2728T>G	XP_005245057.1:p.Ser910Ala
XM_005245001.1:c.2728T>G	XP_005245058.1:p.Ser910Ala
XM_005245005.1:c.2569T>G	XP_005245062.1:p.Ser857Ala
XM_005245006.3:c.2569T>G	XP_005245063.1:p.Ser857Ala
XM_011509330.1:c.2620T>G	XP_011507632.1:p.Ser874Ala
XM_011509331.1:c.2371T>G	XP_011507633.1:p.Ser791Ala
XM_005244999.3:c.2728T>G	XP_005245056.1:p.Ser910Ala
XM_005245000.4:c.2728T>G	XP_005245057.1:p.Ser910Ala
XM_005245001.2:c.2728T>G	XP_005245058.1:p.Ser910Ala
XM_005245005.2:c.2569T>G	XP_005245062.1:p.Ser857Ala
XM_005245006.5:c.2569T>G	XP_005245063.1:p.Ser857Ala
XM_017000744.1:c.2749T>G	XP_016856233.1:p.Ser917Ala
XM_017000745.2:c.2701T>G	XP_016856234.1:p.Ser901Ala
XM_017000746.1:c.2701T>G	XP_016856235.1:p.Ser901Ala
XM_017000748.1:c.2569T>G	XP_016856237.1:p.Ser857Ala
XM_017000749.1:c.2569T>G	XP_016856238.1:p.Ser857Ala
XM_024454305.1:c.2602T>G	XP_024310073.1:p.Ser868Ala
XM_024454306.1:c.1528T>G	XP_024310074.1:p.Ser510Ala
XR_002959801.1:n.2583T>G
NM_015100.4:c.2728T>G MANE Select	NP_055915.2:p.Ser910Ala
NM_001194937.2:c.2701T>G	NP_001181866.1:p.Ser901Ala
NM_001194938.2:c.2542T>G	NP_001181867.1:p.Ser848Ala
NM_145796.4:c.2443T>G	NP_665739.3:p.Ser815Ala