Canonical Allele Identifier: CA351286185

Gene: RNPEPL1

Linked Data

• dbSNP Id: rs1157452411
• MyVariant Identifiers: chr2:g.241516039T>C (hg19) ; chr2:g.240576622T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240576622T>C , CM000664.2:g.240576622T>C	GRCh38
NC_000002.11:g.241516039T>C , CM000664.1:g.241516039T>C	GRCh37
NC_000002.10:g.241164712T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270357.10:c.1598T>C MANE Select	ENSP00000270357.4:p.Val533Ala
ENST00000270357.8:c.905T>C	ENSP00000270357.3:p.Val302Ala
ENST00000437406.1:c.164T>C	ENSP00000403319.1:p.Val55Ala
ENST00000451363.5:c.239T>C	ENSP00000414661.1:p.Val80Ala
ENST00000464550.5:n.434T>C
ENST00000471657.1:n.401T>C
ENST00000481757.5:n.2532T>C
ENST00000486058.5:n.1711T>C
ENST00000493398.5:n.744T>C
NM_018226.4:c.1598T>C	NP_060696.4:p.Val533Ala
XM_005247036.3:c.1565T>C	XP_005247093.1:p.Val522Ala
NM_018226.5:c.1598T>C	NP_060696.4:p.Val533Ala
XM_005247036.4:c.1565T>C	XP_005247093.1:p.Val522Ala
NM_018226.6:c.1598T>C MANE Select	NP_060696.4:p.Val533Ala