Canonical Allele Identifier: CA2205167

Gene: RNPEPL1

Linked Data

• dbSNP Id: rs752359824
• ExAC: 2:241515981 A / G
• gnomAD v2: 2-241515981-A-G
• gnomAD v4: 2-240576564-A-G
• MyVariant Identifiers: chr2:g.241515981A>G (hg19) ; chr2:g.240576564A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240576564A>G , CM000664.2:g.240576564A>G	GRCh38
NC_000002.11:g.241515981A>G , CM000664.1:g.241515981A>G	GRCh37
NC_000002.10:g.241164654A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270357.10:c.1540A>G MANE Select	ENSP00000270357.4:p.Thr514Ala
ENST00000270357.8:c.847A>G	ENSP00000270357.3:p.Thr283Ala
ENST00000437406.1:c.110-4A>G	ENSP00000403319.1:n.110-4A>G
ENST00000451363.5:c.181A>G	ENSP00000414661.1:p.Thr61Ala
ENST00000464550.5:n.376A>G
ENST00000471657.1:n.343A>G
ENST00000481757.5:n.2474A>G
ENST00000486058.5:n.1653A>G
ENST00000493398.5:n.686A>G
NM_018226.4:c.1540A>G	NP_060696.4:p.Thr514Ala
XM_005247036.3:c.1511-4A>G	XP_005247093.1:n.1511-4A>G
NM_018226.5:c.1540A>G	NP_060696.4:p.Thr514Ala
XM_005247036.4:c.1511-4A>G	XP_005247093.1:n.1511-4A>G
NM_018226.6:c.1540A>G MANE Select	NP_060696.4:p.Thr514Ala