Canonical Allele Identifier: CA540535837

Gene: RNPEPL1

Linked Data

• dbSNP Id: rs1228856584
• gnomAD v2: 2-241515375-C-G
• gnomAD v3: 2-240575958-C-G
• gnomAD v4: 2-240575958-C-G
• MyVariant Identifiers: chr2:g.241515375C>G (hg19) ; chr2:g.240575958C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240575958C>G , CM000664.2:g.240575958C>G	GRCh38
NC_000002.11:g.241515375C>G , CM000664.1:g.241515375C>G	GRCh37
NC_000002.10:g.241164048C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270357.10:c.1510+348C>G MANE Select	ENSP00000270357.4:n.1510+348C>G
ENST00000270357.8:c.817+348C>G	ENSP00000270357.3:n.817+348C>G
ENST00000437406.1:c.109+348C>G	ENSP00000403319.1:n.109+348C>G
ENST00000451363.5:c.151+348C>G	ENSP00000414661.1:n.151+348C>G
ENST00000464550.5:n.346+348C>G
ENST00000471657.1:n.313+348C>G
ENST00000481757.5:n.1868C>G
ENST00000486058.5:n.1623+348C>G
ENST00000493398.5:n.656+348C>G
NM_018226.4:c.1510+348C>G	NP_060696.4:n.1510+348C>G
XM_005247036.3:c.1510+348C>G	XP_005247093.1:n.1510+348C>G
NM_018226.5:c.1510+348C>G	NP_060696.4:n.1510+348C>G
XM_005247036.4:c.1510+348C>G	XP_005247093.1:n.1510+348C>G
NM_018226.6:c.1510+348C>G MANE Select	NP_060696.4:n.1510+348C>G