Canonical Allele Identifier: CA81697809

Gene: POGLUT1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.119477378T>C , CM000665.2:g.119477378T>C	GRCh38
NC_000003.11:g.119196225T>C , CM000665.1:g.119196225T>C	GRCh37
NC_000003.10:g.120678915T>C	NCBI36
NG_034115.1:g.13441T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_152305.3:c.386T>C MANE Select	NP_689518.1:p.Ile129Thr
ENST00000295588.9:c.386T>C MANE Select	ENSP00000295588.4:p.Ile129Thr
NM_152305.2:c.386T>C	NP_689518.1:p.Ile129Thr
NR_024265.1:n.470T>C
NR_024265.2:n.445T>C
ENST00000295588.8:c.386T>C	ENSP00000295588.4:p.Ile129Thr
ENST00000460339.1:c.*202T>C	ENSP00000420594.1:n.*202T>C
ENST00000476573.5:c.345T>C
ENST00000486607.5:c.386T>C	ENSP00000419876.1:p.Ile129Thr
ENST00000497447.5:c.386T>C	ENSP00000419288.1:p.Ile129Thr
ENST00000647766.1:c.386T>C	ENSP00000498165.1:p.Ile129Thr
XM_006713705.3:c.-233T>C	XP_006713768.1:n.-233T>C
XM_011512997.1:c.386T>C	XP_011511299.1:p.Ile129Thr
XM_017006878.2:c.-376T>C	XP_016862367.1:n.-376T>C
XM_017006879.1:c.-407T>C	XP_016862368.1:n.-407T>C
XM_024453643.1:c.-1290T>C	XP_024309411.1:n.-1290T>C
XR_001740211.2:n.445T>C
XR_001740212.2:n.445T>C