Canonical Allele Identifier: CA432232133

Gene: RNPEPL1

Linked Data

• MyVariant Identifiers: chr2:g.241516064C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240576647C>G , CM000664.2:g.240576647C>G	GRCh38
NC_000002.11:g.241516064C>G , CM000664.1:g.241516064C>G	GRCh37
NC_000002.10:g.241164737C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270357.10:c.1623C>G MANE Select	ENSP00000270357.4:p.Thr541=
ENST00000270357.8:c.930C>G	ENSP00000270357.3:p.Thr310=
ENST00000437406.1:c.189C>G	ENSP00000403319.1:p.Thr63=
ENST00000451363.5:c.264C>G	ENSP00000414661.1:p.Thr88=
ENST00000464550.5:n.459C>G
ENST00000471657.1:n.426C>G
ENST00000481757.5:n.2557C>G
ENST00000486058.5:n.1736C>G
ENST00000493398.5:n.769C>G
NM_018226.4:c.1623C>G	NP_060696.4:p.Thr541=
XM_005247036.3:c.1590C>G	XP_005247093.1:p.Thr530=
NM_018226.5:c.1623C>G	NP_060696.4:p.Thr541=
XM_005247036.4:c.1590C>G	XP_005247093.1:p.Thr530=
NM_018226.6:c.1623C>G MANE Select	NP_060696.4:p.Thr541=