Canonical Allele Identifier: CA68116040

Gene: RNPEPL1

Linked Data

• dbSNP Id: rs988017482
• gnomAD v4: 2-240576453-G-A
• MyVariant Identifiers: chr2:g.241515870G>A (hg19) ; chr2:g.240576453G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240576453G>A , CM000664.2:g.240576453G>A	GRCh38
NC_000002.11:g.241515870G>A , CM000664.1:g.241515870G>A	GRCh37
NC_000002.10:g.241164543G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270357.10:c.1511-82G>A MANE Select	ENSP00000270357.4:n.1511-82G>A
ENST00000270357.8:c.818-82G>A	ENSP00000270357.3:n.818-82G>A
ENST00000437406.1:c.110-115G>A	ENSP00000403319.1:n.110-115G>A
ENST00000451363.5:c.152-82G>A	ENSP00000414661.1:n.152-82G>A
ENST00000464550.5:n.347-82G>A
ENST00000471657.1:n.314-82G>A
ENST00000481757.5:n.2363G>A
ENST00000486058.5:n.1624-82G>A
ENST00000493398.5:n.657-82G>A
NM_018226.4:c.1511-82G>A	NP_060696.4:n.1511-82G>A
XM_005247036.3:c.1511-115G>A	XP_005247093.1:n.1511-115G>A
NM_018226.5:c.1511-82G>A	NP_060696.4:n.1511-82G>A
XM_005247036.4:c.1511-115G>A	XP_005247093.1:n.1511-115G>A
NM_018226.6:c.1511-82G>A MANE Select	NP_060696.4:n.1511-82G>A