Canonical Allele Identifier: CA432232391

Gene: RNPEPL1

Linked Data

• MyVariant Identifiers: chr2:g.241516004G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240576587G>C , CM000664.2:g.240576587G>C	GRCh38
NC_000002.11:g.241516004G>C , CM000664.1:g.241516004G>C	GRCh37
NC_000002.10:g.241164677G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270357.10:c.1563G>C MANE Select	ENSP00000270357.4:p.Pro521=
ENST00000270357.8:c.870G>C	ENSP00000270357.3:p.Pro290=
ENST00000437406.1:c.129G>C	ENSP00000403319.1:p.Pro43=
ENST00000451363.5:c.204G>C	ENSP00000414661.1:p.Pro68=
ENST00000464550.5:n.399G>C
ENST00000471657.1:n.366G>C
ENST00000481757.5:n.2497G>C
ENST00000486058.5:n.1676G>C
ENST00000493398.5:n.709G>C
NM_018226.4:c.1563G>C	NP_060696.4:p.Pro521=
XM_005247036.3:c.1530G>C	XP_005247093.1:p.Pro510=
NM_018226.5:c.1563G>C	NP_060696.4:p.Pro521=
XM_005247036.4:c.1530G>C	XP_005247093.1:p.Pro510=
NM_018226.6:c.1563G>C MANE Select	NP_060696.4:p.Pro521=