Canonical Allele Identifier: CA2205171

Gene: RNPEPL1

Linked Data

• dbSNP Id: rs756555771
• ExAC: 2:241516003 C / T
• gnomAD v2: 2-241516003-C-T
• gnomAD v4: 2-240576586-C-T
• COSMIC: COSM4764909
• MyVariant Identifiers: chr2:g.241516003C>T (hg19) ; chr2:g.240576586C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240576586C>T , CM000664.2:g.240576586C>T	GRCh38
NC_000002.11:g.241516003C>T , CM000664.1:g.241516003C>T	GRCh37
NC_000002.10:g.241164676C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270357.10:c.1562C>T MANE Select	ENSP00000270357.4:p.Pro521Leu
ENST00000270357.8:c.869C>T	ENSP00000270357.3:p.Pro290Leu
ENST00000437406.1:c.128C>T	ENSP00000403319.1:p.Pro43Leu
ENST00000451363.5:c.203C>T	ENSP00000414661.1:p.Pro68Leu
ENST00000464550.5:n.398C>T
ENST00000471657.1:n.365C>T
ENST00000481757.5:n.2496C>T
ENST00000486058.5:n.1675C>T
ENST00000493398.5:n.708C>T
NM_018226.4:c.1562C>T	NP_060696.4:p.Pro521Leu
XM_005247036.3:c.1529C>T	XP_005247093.1:p.Pro510Leu
NM_018226.5:c.1562C>T	NP_060696.4:p.Pro521Leu
XM_005247036.4:c.1529C>T	XP_005247093.1:p.Pro510Leu
NM_018226.6:c.1562C>T MANE Select	NP_060696.4:p.Pro521Leu