Canonical Allele Identifier: CA351286395

Gene: RNPEPL1

Linked Data

• gnomAD v4: 2-240576664-A-G
• MyVariant Identifiers: chr2:g.241516081A>G (hg19) ; chr2:g.240576664A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240576664A>G , CM000664.2:g.240576664A>G	GRCh38
NC_000002.11:g.241516081A>G , CM000664.1:g.241516081A>G	GRCh37
NC_000002.10:g.241164754A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270357.10:c.1640A>G MANE Select	ENSP00000270357.4:p.Gln547Arg
ENST00000270357.8:c.947A>G	ENSP00000270357.3:p.Gln316Arg
ENST00000437406.1:c.206A>G	ENSP00000403319.1:p.Gln69Arg
ENST00000451363.5:c.281A>G	ENSP00000414661.1:p.Gln94Arg
ENST00000464550.5:n.476A>G
ENST00000471657.1:n.443A>G
ENST00000481757.5:n.2574A>G
ENST00000486058.5:n.1753A>G
ENST00000493398.5:n.786A>G
NM_018226.4:c.1640A>G	NP_060696.4:p.Gln547Arg
XM_005247036.3:c.1607A>G	XP_005247093.1:p.Gln536Arg
NM_018226.5:c.1640A>G	NP_060696.4:p.Gln547Arg
XM_005247036.4:c.1607A>G	XP_005247093.1:p.Gln536Arg
NM_018226.6:c.1640A>G MANE Select	NP_060696.4:p.Gln547Arg