Canonical Allele Identifier: CA351286179

Gene: RNPEPL1

Linked Data

• gnomAD v4: 2-240576621-G-T
• MyVariant Identifiers: chr2:g.241516038G>T (hg19) ; chr2:g.240576621G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240576621G>T , CM000664.2:g.240576621G>T	GRCh38
NC_000002.11:g.241516038G>T , CM000664.1:g.241516038G>T	GRCh37
NC_000002.10:g.241164711G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270357.10:c.1597G>T MANE Select	ENSP00000270357.4:p.Val533Leu
ENST00000270357.8:c.904G>T	ENSP00000270357.3:p.Val302Leu
ENST00000437406.1:c.163G>T	ENSP00000403319.1:p.Val55Leu
ENST00000451363.5:c.238G>T	ENSP00000414661.1:p.Val80Leu
ENST00000464550.5:n.433G>T
ENST00000471657.1:n.400G>T
ENST00000481757.5:n.2531G>T
ENST00000486058.5:n.1710G>T
ENST00000493398.5:n.743G>T
NM_018226.4:c.1597G>T	NP_060696.4:p.Val533Leu
XM_005247036.3:c.1564G>T	XP_005247093.1:p.Val522Leu
NM_018226.5:c.1597G>T	NP_060696.4:p.Val533Leu
XM_005247036.4:c.1564G>T	XP_005247093.1:p.Val522Leu
NM_018226.6:c.1597G>T MANE Select	NP_060696.4:p.Val533Leu