Canonical Allele Identifier: CA351286403

Gene: RNPEPL1

Linked Data

• gnomAD v4: 2-240576667-C-T
• MyVariant Identifiers: chr2:g.241516084C>T (hg19) ; chr2:g.240576667C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240576667C>T , CM000664.2:g.240576667C>T	GRCh38
NC_000002.11:g.241516084C>T , CM000664.1:g.241516084C>T	GRCh37
NC_000002.10:g.241164757C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270357.10:c.1643C>T MANE Select	ENSP00000270357.4:p.Ala548Val
ENST00000270357.8:c.950C>T	ENSP00000270357.3:p.Ala317Val
ENST00000437406.1:c.209C>T	ENSP00000403319.1:p.Ala70Val
ENST00000451363.5:c.284C>T	ENSP00000414661.1:p.Ala95Val
ENST00000464550.5:n.479C>T
ENST00000471657.1:n.446C>T
ENST00000481757.5:n.2577C>T
ENST00000486058.5:n.1756C>T
ENST00000493398.5:n.789C>T
NM_018226.4:c.1643C>T	NP_060696.4:p.Ala548Val
XM_005247036.3:c.1610C>T	XP_005247093.1:p.Ala537Val
NM_018226.5:c.1643C>T	NP_060696.4:p.Ala548Val
XM_005247036.4:c.1610C>T	XP_005247093.1:p.Ala537Val
NM_018226.6:c.1643C>T MANE Select	NP_060696.4:p.Ala548Val