Canonical Allele Identifier: CA432232277

Gene: RNPEPL1

Linked Data

• gnomAD v4: 2-240576542-A-G
• MyVariant Identifiers: chr2:g.241515959A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240576542A>G , CM000664.2:g.240576542A>G	GRCh38
NC_000002.11:g.241515959A>G , CM000664.1:g.241515959A>G	GRCh37
NC_000002.10:g.241164632A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270357.10:c.1518A>G MANE Select	ENSP00000270357.4:p.Glu506=
ENST00000270357.8:c.825A>G	ENSP00000270357.3:p.Glu275=
ENST00000437406.1:c.110-26A>G	ENSP00000403319.1:n.110-26A>G
ENST00000451363.5:c.159A>G	ENSP00000414661.1:p.Glu53=
ENST00000464550.5:n.354A>G
ENST00000471657.1:n.321A>G
ENST00000481757.5:n.2452A>G
ENST00000486058.5:n.1631A>G
ENST00000493398.5:n.664A>G
NM_018226.4:c.1518A>G	NP_060696.4:p.Glu506=
XM_005247036.3:c.1511-26A>G	XP_005247093.1:n.1511-26A>G
NM_018226.5:c.1518A>G	NP_060696.4:p.Glu506=
XM_005247036.4:c.1511-26A>G	XP_005247093.1:n.1511-26A>G
NM_018226.6:c.1518A>G MANE Select	NP_060696.4:p.Glu506=