Canonical Allele Identifier: CA432232482

Gene: RNPEPL1

Linked Data

• gnomAD v4: 2-240576638-G-A
• MyVariant Identifiers: chr2:g.241516055G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240576638G>A , CM000664.2:g.240576638G>A	GRCh38
NC_000002.11:g.241516055G>A , CM000664.1:g.241516055G>A	GRCh37
NC_000002.10:g.241164728G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270357.10:c.1614G>A MANE Select	ENSP00000270357.4:p.Gln538=
ENST00000270357.8:c.921G>A	ENSP00000270357.3:p.Gln307=
ENST00000437406.1:c.180G>A	ENSP00000403319.1:p.Gln60=
ENST00000451363.5:c.255G>A	ENSP00000414661.1:p.Gln85=
ENST00000464550.5:n.450G>A
ENST00000471657.1:n.417G>A
ENST00000481757.5:n.2548G>A
ENST00000486058.5:n.1727G>A
ENST00000493398.5:n.760G>A
NM_018226.4:c.1614G>A	NP_060696.4:p.Gln538=
XM_005247036.3:c.1581G>A	XP_005247093.1:p.Gln527=
NM_018226.5:c.1614G>A	NP_060696.4:p.Gln538=
XM_005247036.4:c.1581G>A	XP_005247093.1:p.Gln527=
NM_018226.6:c.1614G>A MANE Select	NP_060696.4:p.Gln538=