Canonical Allele Identifier: CA1339183716

Gene: RNPEPL1

Linked Data

• dbSNP Id: rs2093036986
• gnomAD v3: 2-240576131-T-A
• gnomAD v4: 2-240576131-T-A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240576131T>A , CM000664.2:g.240576131T>A	GRCh38
NC_000002.11:g.241515548T>A , CM000664.1:g.241515548T>A	GRCh37
NC_000002.10:g.241164221T>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000270357.10:c.1511-404T>A MANE Select	ENSP00000270357.4:n.1511-404T>A
ENST00000270357.8:c.818-404T>A	ENSP00000270357.3:n.818-404T>A
ENST00000437406.1:c.110-437T>A	ENSP00000403319.1:n.110-437T>A
ENST00000451363.5:c.152-404T>A	ENSP00000414661.1:n.152-404T>A
ENST00000464550.5:n.347-404T>A
ENST00000471657.1:n.314-404T>A
ENST00000481757.5:n.2041T>A
ENST00000486058.5:n.1624-404T>A
ENST00000493398.5:n.657-404T>A
NM_018226.4:c.1511-404T>A	NP_060696.4:n.1511-404T>A
XM_005247036.3:c.1511-437T>A	XP_005247093.1:n.1511-437T>A
NM_018226.5:c.1511-404T>A	NP_060696.4:n.1511-404T>A
XM_005247036.4:c.1511-437T>A	XP_005247093.1:n.1511-437T>A
NM_018226.6:c.1511-404T>A MANE Select	NP_060696.4:n.1511-404T>A