Canonical Allele Identifier: CA341972752

Gene: POGZ

Linked Data

• MyVariant Identifiers: chr1:g.151397447A>C (hg19) ; chr1:g.151424971A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.151424971A>C , CM000663.2:g.151424971A>C	GRCh38
NC_000001.10:g.151397447A>C , CM000663.1:g.151397447A>C	GRCh37
NC_000001.9:g.149664071A>C	NCBI36
NG_046601.1:g.39495T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710270.1:c.1217T>G	ENSP00000518163.1:p.Leu406Trp
ENST00000392723.6:c.1010T>G	ENSP00000376484.1:p.Leu337Trp
ENST00000439756.2:c.1169T>G	ENSP00000390156.2:p.Leu390Trp
ENST00000703168.1:c.1190T>G	ENSP00000515214.1:p.Leu397Trp
ENST00000703169.1:c.1142T>G	ENSP00000515215.1:p.Leu381Trp
ENST00000271715.7:c.1169T>G MANE Select	ENSP00000271715.2:p.Leu390Trp
ENST00000271715.6:c.1169T>G	ENSP00000271715.2:p.Leu390Trp
ENST00000358476.7:n.1038T>G
ENST00000368863.6:c.884T>G	ENSP00000357856.2:p.Leu295Trp
ENST00000392723.5:c.1010T>G	ENSP00000376484.1:p.Leu337Trp
ENST00000409503.5:c.1142T>G	ENSP00000386836.1:p.Leu381Trp
ENST00000441516.1:c.159-685T>G
ENST00000491586.5:c.1010T>G	ENSP00000418408.1:p.Leu337Trp
ENST00000495253.1:n.324T>G
ENST00000531094.5:c.983T>G	ENSP00000431259.1:p.Leu328Trp
NM_001194937.1:c.1142T>G	NP_001181866.1:p.Leu381Trp
NM_001194938.1:c.983T>G	NP_001181867.1:p.Leu328Trp
NM_015100.3:c.1169T>G	NP_055915.2:p.Leu390Trp
NM_145796.3:c.884T>G	NP_665739.3:p.Leu295Trp
NM_207171.2:c.1010T>G	NP_997054.1:p.Leu337Trp
XM_005244999.1:c.1169T>G	XP_005245056.1:p.Leu390Trp
XM_005245000.3:c.1169T>G	XP_005245057.1:p.Leu390Trp
XM_005245001.1:c.1169T>G	XP_005245058.1:p.Leu390Trp
XM_005245005.1:c.1010T>G	XP_005245062.1:p.Leu337Trp
XM_005245006.3:c.1010T>G	XP_005245063.1:p.Leu337Trp
XM_011509330.1:c.1061T>G	XP_011507632.1:p.Leu354Trp
XM_011509331.1:c.812T>G	XP_011507633.1:p.Leu271Trp
XR_921760.1:n.1170T>G
XM_005244999.3:c.1169T>G	XP_005245056.1:p.Leu390Trp
XM_005245000.4:c.1169T>G	XP_005245057.1:p.Leu390Trp
XM_005245001.2:c.1169T>G	XP_005245058.1:p.Leu390Trp
XM_005245005.2:c.1010T>G	XP_005245062.1:p.Leu337Trp
XM_005245006.5:c.1010T>G	XP_005245063.1:p.Leu337Trp
XM_017000744.1:c.1190T>G	XP_016856233.1:p.Leu397Trp
XM_017000745.2:c.1142T>G	XP_016856234.1:p.Leu381Trp
XM_017000746.1:c.1142T>G	XP_016856235.1:p.Leu381Trp
XM_017000748.1:c.1010T>G	XP_016856237.1:p.Leu337Trp
XM_017000749.1:c.1010T>G	XP_016856238.1:p.Leu337Trp
XM_024454305.1:c.1190T>G	XP_024310073.1:p.Leu397Trp
XM_024454306.1:c.-15-685T>G	XP_024310074.1:n.-15-685T>G
XR_002959801.1:n.1197T>G
NM_015100.4:c.1169T>G MANE Select	NP_055915.2:p.Leu390Trp
NM_001194937.2:c.1142T>G	NP_001181866.1:p.Leu381Trp
NM_001194938.2:c.983T>G	NP_001181867.1:p.Leu328Trp
NM_145796.4:c.884T>G	NP_665739.3:p.Leu295Trp