Canonical Allele Identifier: CA1339183841

Gene: RNPEPL1

Linked Data

• dbSNP Id: rs1575438724
• gnomAD v4: 2-240576319-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240576319A>G , CM000664.2:g.240576319A>G	GRCh38
NC_000002.11:g.241515736A>G , CM000664.1:g.241515736A>G	GRCh37
NC_000002.10:g.241164409A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270357.10:c.1511-216A>G MANE Select	ENSP00000270357.4:n.1511-216A>G
ENST00000270357.8:c.818-216A>G	ENSP00000270357.3:n.818-216A>G
ENST00000437406.1:c.110-249A>G	ENSP00000403319.1:n.110-249A>G
ENST00000451363.5:c.152-216A>G	ENSP00000414661.1:n.152-216A>G
ENST00000464550.5:n.347-216A>G
ENST00000471657.1:n.314-216A>G
ENST00000481757.5:n.2229A>G
ENST00000486058.5:n.1624-216A>G
ENST00000493398.5:n.657-216A>G
NM_018226.4:c.1511-216A>G	NP_060696.4:n.1511-216A>G
XM_005247036.3:c.1511-249A>G	XP_005247093.1:n.1511-249A>G
NM_018226.5:c.1511-216A>G	NP_060696.4:n.1511-216A>G
XM_005247036.4:c.1511-249A>G	XP_005247093.1:n.1511-249A>G
NM_018226.6:c.1511-216A>G MANE Select	NP_060696.4:n.1511-216A>G