Canonical Allele Identifier: CA351286008

Gene: RNPEPL1

Linked Data

• dbSNP Id: rs1409012525
• gnomAD v2: 2-241516000-A-C
• gnomAD v4: 2-240576583-A-C
• MyVariant Identifiers: chr2:g.241516000A>C (hg19) ; chr2:g.240576583A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240576583A>C , CM000664.2:g.240576583A>C	GRCh38
NC_000002.11:g.241516000A>C , CM000664.1:g.241516000A>C	GRCh37
NC_000002.10:g.241164673A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270357.10:c.1559A>C MANE Select	ENSP00000270357.4:p.Glu520Ala
ENST00000270357.8:c.866A>C	ENSP00000270357.3:p.Glu289Ala
ENST00000437406.1:c.125A>C	ENSP00000403319.1:p.Glu42Ala
ENST00000451363.5:c.200A>C	ENSP00000414661.1:p.Glu67Ala
ENST00000464550.5:n.395A>C
ENST00000471657.1:n.362A>C
ENST00000481757.5:n.2493A>C
ENST00000486058.5:n.1672A>C
ENST00000493398.5:n.705A>C
NM_018226.4:c.1559A>C	NP_060696.4:p.Glu520Ala
XM_005247036.3:c.1526A>C	XP_005247093.1:p.Glu509Ala
NM_018226.5:c.1559A>C	NP_060696.4:p.Glu520Ala
XM_005247036.4:c.1526A>C	XP_005247093.1:p.Glu509Ala
NM_018226.6:c.1559A>C MANE Select	NP_060696.4:p.Glu520Ala