Canonical Allele Identifier: CA369161891

Gene: RBM28

Linked Data

• gnomAD v4: 7-128330896-A-C
• MyVariant Identifiers: chr7:g.127970949A>C (hg19) ; chr7:g.128330896A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.128330896A>C , CM000669.2:g.128330896A>C	GRCh38
NC_000007.13:g.127970949A>C , CM000669.1:g.127970949A>C	GRCh37
NC_000007.12:g.127758185A>C	NCBI36
NG_015802.1:g.18014T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000223073.6:c.1052T>G MANE Select	ENSP00000223073.1:p.Leu351Arg
ENST00000415472.6:c.629T>G	ENSP00000390517.2:p.Leu210Arg
ENST00000487602.5:c.469T>G
NM_001166135.1:c.629T>G	NP_001159607.1:p.Leu210Arg
NM_018077.2:c.1052T>G	NP_060547.2:p.Leu351Arg
XM_011516370.1:c.1154T>G	XP_011514672.1:p.Leu385Arg
XM_011516371.1:c.58T>G	XP_011514673.1:p.Leu20Val
XR_927487.1:n.1274T>G
XM_011516370.3:c.1154T>G	XP_011514672.1:p.Leu385Arg
XM_017012389.1:c.1154T>G	XP_016867878.1:p.Leu385Arg
XM_017012390.1:c.1052T>G	XP_016867879.1:p.Leu351Arg
XR_001744830.1:n.1276T>G
NM_001166135.2:c.629T>G	NP_001159607.1:p.Leu210Arg
NM_018077.3:c.1052T>G MANE Select	NP_060547.2:p.Leu351Arg