Canonical Allele Identifier: CA432232401

Gene: RNPEPL1

Linked Data

• MyVariant Identifiers: chr2:g.241516010G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240576593G>T , CM000664.2:g.240576593G>T	GRCh38
NC_000002.11:g.241516010G>T , CM000664.1:g.241516010G>T	GRCh37
NC_000002.10:g.241164683G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270357.10:c.1569G>T MANE Select	ENSP00000270357.4:p.Leu523=
ENST00000270357.8:c.876G>T	ENSP00000270357.3:p.Leu292=
ENST00000437406.1:c.135G>T	ENSP00000403319.1:p.Leu45=
ENST00000451363.5:c.210G>T	ENSP00000414661.1:p.Leu70=
ENST00000464550.5:n.405G>T
ENST00000471657.1:n.372G>T
ENST00000481757.5:n.2503G>T
ENST00000486058.5:n.1682G>T
ENST00000493398.5:n.715G>T
NM_018226.4:c.1569G>T	NP_060696.4:p.Leu523=
XM_005247036.3:c.1536G>T	XP_005247093.1:p.Leu512=
NM_018226.5:c.1569G>T	NP_060696.4:p.Leu523=
XM_005247036.4:c.1536G>T	XP_005247093.1:p.Leu512=
NM_018226.6:c.1569G>T MANE Select	NP_060696.4:p.Leu523=