Canonical Allele Identifier: CA432232442

Gene: RNPEPL1

Linked Data

• MyVariant Identifiers: chr2:g.241516028G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240576611G>C , CM000664.2:g.240576611G>C	GRCh38
NC_000002.11:g.241516028G>C , CM000664.1:g.241516028G>C	GRCh37
NC_000002.10:g.241164701G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270357.10:c.1587G>C MANE Select	ENSP00000270357.4:p.Leu529=
ENST00000270357.8:c.894G>C	ENSP00000270357.3:p.Leu298=
ENST00000437406.1:c.153G>C	ENSP00000403319.1:p.Leu51=
ENST00000451363.5:c.228G>C	ENSP00000414661.1:p.Leu76=
ENST00000464550.5:n.423G>C
ENST00000471657.1:n.390G>C
ENST00000481757.5:n.2521G>C
ENST00000486058.5:n.1700G>C
ENST00000493398.5:n.733G>C
NM_018226.4:c.1587G>C	NP_060696.4:p.Leu529=
XM_005247036.3:c.1554G>C	XP_005247093.1:p.Leu518=
NM_018226.5:c.1587G>C	NP_060696.4:p.Leu529=
XM_005247036.4:c.1554G>C	XP_005247093.1:p.Leu518=
NM_018226.6:c.1587G>C MANE Select	NP_060696.4:p.Leu529=