Canonical Allele Identifier: CA354042275

Gene: POGLUT1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.119480146G>A , CM000665.2:g.119480146G>A	GRCh38
NC_000003.11:g.119198993G>A , CM000665.1:g.119198993G>A	GRCh37
NC_000003.10:g.120681683G>A	NCBI36
NG_034115.1:g.16209G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_152305.3:c.552G>A MANE Select	NP_689518.1:p.Trp184Ter
ENST00000295588.9:c.552G>A MANE Select	ENSP00000295588.4:p.Trp184Ter
NM_152305.2:c.552G>A	NP_689518.1:p.Trp184Ter
NR_024265.1:n.779G>A
NR_024265.2:n.754G>A
ENST00000295588.8:c.552G>A	ENSP00000295588.4:p.Trp184Ter
ENST00000476573.5:c.511G>A
ENST00000486607.5:c.*203G>A	ENSP00000419876.1:n.*203G>A
ENST00000497447.5:c.*272G>A	ENSP00000419288.1:n.*272G>A
ENST00000647766.1:c.*272G>A	ENSP00000498165.1:n.*272G>A
XM_006713704.2:c.75G>A	XP_006713767.1:p.Trp25Ter
XM_006713705.2:c.75G>A	XP_006713768.1:p.Trp25Ter
XM_006713705.3:c.75G>A	XP_006713768.1:p.Trp25Ter
XM_011512997.1:c.552G>A	XP_011511299.1:p.Trp184Ter
XM_017006878.2:c.75G>A	XP_016862367.1:p.Trp25Ter
XM_017006879.1:c.75G>A	XP_016862368.1:p.Trp25Ter
XM_024453643.1:c.75G>A	XP_024309411.1:p.Trp25Ter
XR_001740211.2:n.611G>A
XR_001740212.2:n.611G>A