Canonical Allele Identifier: CA432232466

Gene: RNPEPL1

Linked Data

• MyVariant Identifiers: chr2:g.241516040G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240576623G>C , CM000664.2:g.240576623G>C	GRCh38
NC_000002.11:g.241516040G>C , CM000664.1:g.241516040G>C	GRCh37
NC_000002.10:g.241164713G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270357.10:c.1599G>C MANE Select	ENSP00000270357.4:p.Val533=
ENST00000270357.8:c.906G>C	ENSP00000270357.3:p.Val302=
ENST00000437406.1:c.165G>C	ENSP00000403319.1:p.Val55=
ENST00000451363.5:c.240G>C	ENSP00000414661.1:p.Val80=
ENST00000464550.5:n.435G>C
ENST00000471657.1:n.402G>C
ENST00000481757.5:n.2533G>C
ENST00000486058.5:n.1712G>C
ENST00000493398.5:n.745G>C
NM_018226.4:c.1599G>C	NP_060696.4:p.Val533=
XM_005247036.3:c.1566G>C	XP_005247093.1:p.Val522=
NM_018226.5:c.1599G>C	NP_060696.4:p.Val533=
XM_005247036.4:c.1566G>C	XP_005247093.1:p.Val522=
NM_018226.6:c.1599G>C MANE Select	NP_060696.4:p.Val533=