Canonical Allele Identifier: CA351286198

Gene: RNPEPL1

Linked Data

• gnomAD v4: 2-240576626-G-C
• MyVariant Identifiers: chr2:g.241516043G>C (hg19) ; chr2:g.240576626G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240576626G>C , CM000664.2:g.240576626G>C	GRCh38
NC_000002.11:g.241516043G>C , CM000664.1:g.241516043G>C	GRCh37
NC_000002.10:g.241164716G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270357.10:c.1602G>C MANE Select	ENSP00000270357.4:p.Glu534Asp
ENST00000270357.8:c.909G>C	ENSP00000270357.3:p.Glu303Asp
ENST00000437406.1:c.168G>C	ENSP00000403319.1:p.Glu56Asp
ENST00000451363.5:c.243G>C	ENSP00000414661.1:p.Glu81Asp
ENST00000464550.5:n.438G>C
ENST00000471657.1:n.405G>C
ENST00000481757.5:n.2536G>C
ENST00000486058.5:n.1715G>C
ENST00000493398.5:n.748G>C
NM_018226.4:c.1602G>C	NP_060696.4:p.Glu534Asp
XM_005247036.3:c.1569G>C	XP_005247093.1:p.Glu523Asp
NM_018226.5:c.1602G>C	NP_060696.4:p.Glu534Asp
XM_005247036.4:c.1569G>C	XP_005247093.1:p.Glu523Asp
NM_018226.6:c.1602G>C MANE Select	NP_060696.4:p.Glu534Asp