Canonical Allele Identifier: CA68116015

Gene: RNPEPL1

Linked Data

• dbSNP Id: rs74497642
• gnomAD v3: 2-240576292-G-T
• gnomAD v4: 2-240576292-G-T
• MyVariant Identifiers: chr2:g.241515709G>T (hg19) ; chr2:g.240576292G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240576292G>T , CM000664.2:g.240576292G>T	GRCh38
NC_000002.11:g.241515709G>T , CM000664.1:g.241515709G>T	GRCh37
NC_000002.10:g.241164382G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270357.10:c.1511-243G>T MANE Select	ENSP00000270357.4:n.1511-243G>T
ENST00000270357.8:c.818-243G>T	ENSP00000270357.3:n.818-243G>T
ENST00000437406.1:c.110-276G>T	ENSP00000403319.1:n.110-276G>T
ENST00000451363.5:c.152-243G>T	ENSP00000414661.1:n.152-243G>T
ENST00000464550.5:n.347-243G>T
ENST00000471657.1:n.314-243G>T
ENST00000481757.5:n.2202G>T
ENST00000486058.5:n.1624-243G>T
ENST00000493398.5:n.657-243G>T
NM_018226.4:c.1511-243G>T	NP_060696.4:n.1511-243G>T
XM_005247036.3:c.1511-276G>T	XP_005247093.1:n.1511-276G>T
NM_018226.5:c.1511-243G>T	NP_060696.4:n.1511-243G>T
XM_005247036.4:c.1511-276G>T	XP_005247093.1:n.1511-276G>T
NM_018226.6:c.1511-243G>T MANE Select	NP_060696.4:n.1511-243G>T