Canonical Allele Identifier: CA2554795

Gene: POGLUT1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.119471424C>T , CM000665.2:g.119471424C>T	GRCh38
NC_000003.11:g.119190271C>T , CM000665.1:g.119190271C>T	GRCh37
NC_000003.10:g.120672961C>T	NCBI36
NG_034115.1:g.7487C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_152305.3:c.292C>T MANE Select	NP_689518.1:p.Arg98Trp
ENST00000295588.9:c.292C>T MANE Select	ENSP00000295588.4:p.Arg98Trp
NM_152305.2:c.292C>T	NP_689518.1:p.Arg98Trp
NR_024265.1:n.376C>T
NR_024265.2:n.351C>T
ENST00000295588.8:c.292C>T	ENSP00000295588.4:p.Arg98Trp
ENST00000390401.2:n.339C>T
ENST00000460339.1:c.*108C>T	ENSP00000420594.1:n.*108C>T
ENST00000476573.5:c.251C>T
ENST00000486607.5:c.292C>T	ENSP00000419876.1:p.Arg98Trp
ENST00000497447.5:c.292C>T	ENSP00000419288.1:p.Arg98Trp
ENST00000647766.1:c.292C>T	ENSP00000498165.1:p.Arg98Trp
XM_006713705.3:c.-327C>T	XP_006713768.1:n.-327C>T
XM_011512997.1:c.292C>T	XP_011511299.1:p.Arg98Trp
XM_017006878.2:c.-470C>T	XP_016862367.1:n.-470C>T
XM_017006879.1:c.-501C>T	XP_016862368.1:n.-501C>T
XM_024453643.1:c.-1384C>T	XP_024309411.1:n.-1384C>T
XR_001740211.2:n.351C>T
XR_001740212.2:n.351C>T