Canonical Allele Identifier: CA351286396

Gene: RNPEPL1

Linked Data

• MyVariant Identifiers: chr2:g.241516082G>C (hg19) ; chr2:g.240576665G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240576665G>C , CM000664.2:g.240576665G>C	GRCh38
NC_000002.11:g.241516082G>C , CM000664.1:g.241516082G>C	GRCh37
NC_000002.10:g.241164755G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270357.10:c.1641G>C MANE Select	ENSP00000270357.4:p.Gln547His
ENST00000270357.8:c.948G>C	ENSP00000270357.3:p.Gln316His
ENST00000437406.1:c.207G>C	ENSP00000403319.1:p.Gln69His
ENST00000451363.5:c.282G>C	ENSP00000414661.1:p.Gln94His
ENST00000464550.5:n.477G>C
ENST00000471657.1:n.444G>C
ENST00000481757.5:n.2575G>C
ENST00000486058.5:n.1754G>C
ENST00000493398.5:n.787G>C
NM_018226.4:c.1641G>C	NP_060696.4:p.Gln547His
XM_005247036.3:c.1608G>C	XP_005247093.1:p.Gln536His
NM_018226.5:c.1641G>C	NP_060696.4:p.Gln547His
XM_005247036.4:c.1608G>C	XP_005247093.1:p.Gln536His
NM_018226.6:c.1641G>C MANE Select	NP_060696.4:p.Gln547His