Canonical Allele Identifier: CA351286280

Gene: RNPEPL1

Linked Data

• MyVariant Identifiers: chr2:g.241516057T>C (hg19) ; chr2:g.240576640T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240576640T>C , CM000664.2:g.240576640T>C	GRCh38
NC_000002.11:g.241516057T>C , CM000664.1:g.241516057T>C	GRCh37
NC_000002.10:g.241164730T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270357.10:c.1616T>C MANE Select	ENSP00000270357.4:p.Leu539Pro
ENST00000270357.8:c.923T>C	ENSP00000270357.3:p.Leu308Pro
ENST00000437406.1:c.182T>C	ENSP00000403319.1:p.Leu61Pro
ENST00000451363.5:c.257T>C	ENSP00000414661.1:p.Leu86Pro
ENST00000464550.5:n.452T>C
ENST00000471657.1:n.419T>C
ENST00000481757.5:n.2550T>C
ENST00000486058.5:n.1729T>C
ENST00000493398.5:n.762T>C
NM_018226.4:c.1616T>C	NP_060696.4:p.Leu539Pro
XM_005247036.3:c.1583T>C	XP_005247093.1:p.Leu528Pro
NM_018226.5:c.1616T>C	NP_060696.4:p.Leu539Pro
XM_005247036.4:c.1583T>C	XP_005247093.1:p.Leu528Pro
NM_018226.6:c.1616T>C MANE Select	NP_060696.4:p.Leu539Pro