Canonical Allele Identifier: CA766921230

Gene: RNPEPL1

Linked Data

• dbSNP Id: rs1223004179
• gnomAD v3: 2-240576197-C-G
• gnomAD v4: 2-240576197-C-G
• MyVariant Identifiers: chr2:g.241515614C>G (hg19) ; chr2:g.240576197C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240576197C>G , CM000664.2:g.240576197C>G	GRCh38
NC_000002.11:g.241515614C>G , CM000664.1:g.241515614C>G	GRCh37
NC_000002.10:g.241164287C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000270357.10:c.1511-338C>G MANE Select	ENSP00000270357.4:n.1511-338C>G
ENST00000270357.8:c.818-338C>G	ENSP00000270357.3:n.818-338C>G
ENST00000437406.1:c.110-371C>G	ENSP00000403319.1:n.110-371C>G
ENST00000451363.5:c.152-338C>G	ENSP00000414661.1:n.152-338C>G
ENST00000464550.5:n.347-338C>G
ENST00000471657.1:n.314-338C>G
ENST00000481757.5:n.2107C>G
ENST00000486058.5:n.1624-338C>G
ENST00000493398.5:n.657-338C>G
NM_018226.4:c.1511-338C>G	NP_060696.4:n.1511-338C>G
XM_005247036.3:c.1511-371C>G	XP_005247093.1:n.1511-371C>G
NM_018226.5:c.1511-338C>G	NP_060696.4:n.1511-338C>G
XM_005247036.4:c.1511-371C>G	XP_005247093.1:n.1511-371C>G
NM_018226.6:c.1511-338C>G MANE Select	NP_060696.4:n.1511-338C>G