Canonical Allele Identifier: CA432232134

Gene: RNPEPL1

Linked Data

• gnomAD v4: 2-240576647-C-A
• MyVariant Identifiers: chr2:g.241516064C>A (hg19)

Genomic Alleles

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

Transcript Alleles

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