Canonical Allele Identifier: CA2663969166

Gene: RNPEPL1

Linked Data

• gnomAD v4: 2-240576410-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240576410G>T , CM000664.2:g.240576410G>T	GRCh38
NC_000002.11:g.241515827G>T , CM000664.1:g.241515827G>T	GRCh37
NC_000002.10:g.241164500G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270357.10:c.1511-125G>T MANE Select	ENSP00000270357.4:n.1511-125G>T
ENST00000270357.8:c.818-125G>T	ENSP00000270357.3:n.818-125G>T
ENST00000437406.1:c.110-158G>T	ENSP00000403319.1:n.110-158G>T
ENST00000451363.5:c.152-125G>T	ENSP00000414661.1:n.152-125G>T
ENST00000464550.5:n.347-125G>T
ENST00000471657.1:n.314-125G>T
ENST00000481757.5:n.2320G>T
ENST00000486058.5:n.1624-125G>T
ENST00000493398.5:n.657-125G>T
NM_018226.4:c.1511-125G>T	NP_060696.4:n.1511-125G>T
XM_005247036.3:c.1511-158G>T	XP_005247093.1:n.1511-158G>T
NM_018226.5:c.1511-125G>T	NP_060696.4:n.1511-125G>T
XM_005247036.4:c.1511-158G>T	XP_005247093.1:n.1511-158G>T
NM_018226.6:c.1511-125G>T MANE Select	NP_060696.4:n.1511-125G>T