Canonical Allele Identifier: CA369161922

Gene: RBM28

Linked Data

• MyVariant Identifiers: chr7:g.127970961T>A (hg19) ; chr7:g.128330908T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.128330908T>A , CM000669.2:g.128330908T>A	GRCh38
NC_000007.13:g.127970961T>A , CM000669.1:g.127970961T>A	GRCh37
NC_000007.12:g.127758197T>A	NCBI36
NG_015802.1:g.18002A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000223073.6:c.1040A>T MANE Select	ENSP00000223073.1:p.Glu347Val
ENST00000415472.6:c.617A>T	ENSP00000390517.2:p.Glu206Val
ENST00000487602.5:c.457A>T
NM_001166135.1:c.617A>T	NP_001159607.1:p.Glu206Val
NM_018077.2:c.1040A>T	NP_060547.2:p.Glu347Val
XM_011516370.1:c.1142A>T	XP_011514672.1:p.Glu381Val
XM_011516371.1:c.46A>T	XP_011514673.1:p.Lys16Ter
XR_927487.1:n.1262A>T
XM_011516370.3:c.1142A>T	XP_011514672.1:p.Glu381Val
XM_017012389.1:c.1142A>T	XP_016867878.1:p.Glu381Val
XM_017012390.1:c.1040A>T	XP_016867879.1:p.Glu347Val
XR_001744830.1:n.1264A>T
NM_001166135.2:c.617A>T	NP_001159607.1:p.Glu206Val
NM_018077.3:c.1040A>T MANE Select	NP_060547.2:p.Glu347Val