Canonical Allele Identifier: CA351286048

Gene: RNPEPL1

Linked Data

• gnomAD v4: 2-240576591-C-G
• MyVariant Identifiers: chr2:g.241516008C>G (hg19) ; chr2:g.240576591C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240576591C>G , CM000664.2:g.240576591C>G	GRCh38
NC_000002.11:g.241516008C>G , CM000664.1:g.241516008C>G	GRCh37
NC_000002.10:g.241164681C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270357.10:c.1567C>G MANE Select	ENSP00000270357.4:p.Leu523Val
ENST00000270357.8:c.874C>G	ENSP00000270357.3:p.Leu292Val
ENST00000437406.1:c.133C>G	ENSP00000403319.1:p.Leu45Val
ENST00000451363.5:c.208C>G	ENSP00000414661.1:p.Leu70Val
ENST00000464550.5:n.403C>G
ENST00000471657.1:n.370C>G
ENST00000481757.5:n.2501C>G
ENST00000486058.5:n.1680C>G
ENST00000493398.5:n.713C>G
NM_018226.4:c.1567C>G	NP_060696.4:p.Leu523Val
XM_005247036.3:c.1534C>G	XP_005247093.1:p.Leu512Val
NM_018226.5:c.1567C>G	NP_060696.4:p.Leu523Val
XM_005247036.4:c.1534C>G	XP_005247093.1:p.Leu512Val
NM_018226.6:c.1567C>G MANE Select	NP_060696.4:p.Leu523Val