Canonical Allele Identifier: CA412322163

Gene: GPM6B OFD1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.13776267C>T , CM000685.2:g.13776267C>T	GRCh38
NC_000023.10:g.13794386C>T , CM000685.1:g.13794386C>T	GRCh37
NC_000023.9:g.13704307C>T	NCBI36
NG_011988.1:g.167446G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000454189.7:c.631G>A (GPM6B)	ENSP00000389915.2:p.Ala211Thr
ENST00000683454.1:n.3522C>T (OFD1)
ENST00000316715.9:c.808G>A (GPM6B) MANE Select	ENSP00000316861.4:p.Ala270Thr
ENST00000316715.8:c.808G>A (GPM6B)	ENSP00000316861.4:p.Ala270Thr
ENST00000355135.6:c.808G>A (GPM6B)	ENSP00000347258.2:p.Ala270Thr
ENST00000356942.9:c.688G>A (GPM6B)	ENSP00000349420.5:p.Ala230Thr
ENST00000398361.7:c.430G>A (GPM6B)	ENSP00000381402.3:p.Ala144Thr
ENST00000454189.6:c.631G>A (GPM6B)	ENSP00000389915.2:p.Ala211Thr
ENST00000472735.5:n.374G>A (GPM6B)
ENST00000493677.5:c.730G>A (GPM6B)	ENSP00000419904.1:p.Ala244Thr
ENST00000495211.2:n.583G>A (GPM6B)
NM_001001994.1:c.631G>A (GPM6B)	NP_001001994.1:p.Ala211Thr
NM_001001995.1:c.808G>A (GPM6B)	NP_001001995.1:p.Ala270Thr
NM_001001996.1:c.808G>A (GPM6B)	NP_001001996.1:p.Ala270Thr
NM_005278.3:c.688G>A (GPM6B)	NP_005269.1:p.Ala230Thr
XM_005274489.3:c.688G>A (GPM6B)	XP_005274546.1:p.Ala230Thr
XM_005274490.3:c.631G>A (GPM6B)	XP_005274547.1:p.Ala211Thr
XM_011545497.1:c.751G>A (GPM6B)	XP_011543799.1:p.Ala251Thr
NM_001001994.2:c.631G>A (GPM6B)	NP_001001994.1:p.Ala211Thr
NM_001001995.2:c.808G>A (GPM6B)	NP_001001995.1:p.Ala270Thr
NM_001001996.2:c.808G>A (GPM6B)	NP_001001996.1:p.Ala270Thr
NM_001318729.1:c.631G>A (GPM6B)	NP_001305658.1:p.Ala211Thr
NM_005278.4:c.688G>A (GPM6B)	NP_005269.1:p.Ala230Thr
XM_005274489.5:c.688G>A (GPM6B)	XP_005274546.1:p.Ala230Thr
XM_011545497.2:c.751G>A (GPM6B)	XP_011543799.1:p.Ala251Thr
XM_017029432.1:c.751G>A (GPM6B)	XP_016884921.1:p.Ala251Thr
NM_001001995.3:c.808G>A (GPM6B) MANE Select	NP_001001995.1:p.Ala270Thr
NM_001001994.3:c.631G>A (GPM6B)	NP_001001994.1:p.Ala211Thr
NM_001001996.3:c.808G>A (GPM6B)	NP_001001996.1:p.Ala270Thr
NM_001318729.2:c.631G>A (GPM6B)	NP_001305658.1:p.Ala211Thr
NM_005278.5:c.688G>A (GPM6B)	NP_005269.1:p.Ala230Thr