Canonical Allele Identifier: CA351286285

Gene: RNPEPL1

Linked Data

• MyVariant Identifiers: chr2:g.241516059T>C (hg19) ; chr2:g.240576642T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240576642T>C , CM000664.2:g.240576642T>C	GRCh38
NC_000002.11:g.241516059T>C , CM000664.1:g.241516059T>C	GRCh37
NC_000002.10:g.241164732T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270357.10:c.1618T>C MANE Select	ENSP00000270357.4:p.Trp540Arg
ENST00000270357.8:c.925T>C	ENSP00000270357.3:p.Trp309Arg
ENST00000437406.1:c.184T>C	ENSP00000403319.1:p.Trp62Arg
ENST00000451363.5:c.259T>C	ENSP00000414661.1:p.Trp87Arg
ENST00000464550.5:n.454T>C
ENST00000471657.1:n.421T>C
ENST00000481757.5:n.2552T>C
ENST00000486058.5:n.1731T>C
ENST00000493398.5:n.764T>C
NM_018226.4:c.1618T>C	NP_060696.4:p.Trp540Arg
XM_005247036.3:c.1585T>C	XP_005247093.1:p.Trp529Arg
NM_018226.5:c.1618T>C	NP_060696.4:p.Trp540Arg
XM_005247036.4:c.1585T>C	XP_005247093.1:p.Trp529Arg
NM_018226.6:c.1618T>C MANE Select	NP_060696.4:p.Trp540Arg