Canonical Allele Identifier: CA351286130

Gene: RNPEPL1

Linked Data

• dbSNP Id: rs1575438883
• MyVariant Identifiers: chr2:g.241516029A>C (hg19) ; chr2:g.240576612A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240576612A>C , CM000664.2:g.240576612A>C	GRCh38
NC_000002.11:g.241516029A>C , CM000664.1:g.241516029A>C	GRCh37
NC_000002.10:g.241164702A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270357.10:c.1588A>C MANE Select	ENSP00000270357.4:p.Thr530Pro
ENST00000270357.8:c.895A>C	ENSP00000270357.3:p.Thr299Pro
ENST00000437406.1:c.154A>C	ENSP00000403319.1:p.Thr52Pro
ENST00000451363.5:c.229A>C	ENSP00000414661.1:p.Thr77Pro
ENST00000464550.5:n.424A>C
ENST00000471657.1:n.391A>C
ENST00000481757.5:n.2522A>C
ENST00000486058.5:n.1701A>C
ENST00000493398.5:n.734A>C
NM_018226.4:c.1588A>C	NP_060696.4:p.Thr530Pro
XM_005247036.3:c.1555A>C	XP_005247093.1:p.Thr519Pro
NM_018226.5:c.1588A>C	NP_060696.4:p.Thr530Pro
XM_005247036.4:c.1555A>C	XP_005247093.1:p.Thr519Pro
NM_018226.6:c.1588A>C MANE Select	NP_060696.4:p.Thr530Pro