Canonical Allele Identifier: CA432232139

Gene: RNPEPL1

Linked Data

• MyVariant Identifiers: chr2:g.241516070A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240576653A>G , CM000664.2:g.240576653A>G	GRCh38
NC_000002.11:g.241516070A>G , CM000664.1:g.241516070A>G	GRCh37
NC_000002.10:g.241164743A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270357.10:c.1629A>G MANE Select	ENSP00000270357.4:p.Glu543=
ENST00000270357.8:c.936A>G	ENSP00000270357.3:p.Glu312=
ENST00000437406.1:c.195A>G	ENSP00000403319.1:p.Glu65=
ENST00000451363.5:c.270A>G	ENSP00000414661.1:p.Glu90=
ENST00000464550.5:n.465A>G
ENST00000471657.1:n.432A>G
ENST00000481757.5:n.2563A>G
ENST00000486058.5:n.1742A>G
ENST00000493398.5:n.775A>G
NM_018226.4:c.1629A>G	NP_060696.4:p.Glu543=
XM_005247036.3:c.1596A>G	XP_005247093.1:p.Glu532=
NM_018226.5:c.1629A>G	NP_060696.4:p.Glu543=
XM_005247036.4:c.1596A>G	XP_005247093.1:p.Glu532=
NM_018226.6:c.1629A>G MANE Select	NP_060696.4:p.Glu543=