Canonical Allele Identifier: CA351286121

Gene: RNPEPL1

Linked Data

• MyVariant Identifiers: chr2:g.241516026C>G (hg19) ; chr2:g.240576609C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240576609C>G , CM000664.2:g.240576609C>G	GRCh38
NC_000002.11:g.241516026C>G , CM000664.1:g.241516026C>G	GRCh37
NC_000002.10:g.241164699C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270357.10:c.1585C>G MANE Select	ENSP00000270357.4:p.Leu529Val
ENST00000270357.8:c.892C>G	ENSP00000270357.3:p.Leu298Val
ENST00000437406.1:c.151C>G	ENSP00000403319.1:p.Leu51Val
ENST00000451363.5:c.226C>G	ENSP00000414661.1:p.Leu76Val
ENST00000464550.5:n.421C>G
ENST00000471657.1:n.388C>G
ENST00000481757.5:n.2519C>G
ENST00000486058.5:n.1698C>G
ENST00000493398.5:n.731C>G
NM_018226.4:c.1585C>G	NP_060696.4:p.Leu529Val
XM_005247036.3:c.1552C>G	XP_005247093.1:p.Leu518Val
NM_018226.5:c.1585C>G	NP_060696.4:p.Leu529Val
XM_005247036.4:c.1552C>G	XP_005247093.1:p.Leu518Val
NM_018226.6:c.1585C>G MANE Select	NP_060696.4:p.Leu529Val