Canonical Allele Identifier: CA2205176

Gene: RNPEPL1

Linked Data

• dbSNP Id: rs572668708
• ExAC: 2:241516037 C / G
• gnomAD v2: 2-241516037-C-G
• gnomAD v4: 2-240576620-C-G
• MyVariant Identifiers: chr2:g.241516037C>G (hg19) ; chr2:g.240576620C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240576620C>G , CM000664.2:g.240576620C>G	GRCh38
NC_000002.11:g.241516037C>G , CM000664.1:g.241516037C>G	GRCh37
NC_000002.10:g.241164710C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270357.10:c.1596C>G MANE Select	ENSP00000270357.4:p.Pro532=
ENST00000270357.8:c.903C>G	ENSP00000270357.3:p.Pro301=
ENST00000437406.1:c.162C>G	ENSP00000403319.1:p.Pro54=
ENST00000451363.5:c.237C>G	ENSP00000414661.1:p.Pro79=
ENST00000464550.5:n.432C>G
ENST00000471657.1:n.399C>G
ENST00000481757.5:n.2530C>G
ENST00000486058.5:n.1709C>G
ENST00000493398.5:n.742C>G
NM_018226.4:c.1596C>G	NP_060696.4:p.Pro532=
XM_005247036.3:c.1563C>G	XP_005247093.1:p.Pro521=
NM_018226.5:c.1596C>G	NP_060696.4:p.Pro532=
XM_005247036.4:c.1563C>G	XP_005247093.1:p.Pro521=
NM_018226.6:c.1596C>G MANE Select	NP_060696.4:p.Pro532=