Canonical Allele Identifier: CA351285931

Gene: RNPEPL1

Linked Data

• MyVariant Identifiers: chr2:g.241515979C>T (hg19) ; chr2:g.240576562C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240576562C>T , CM000664.2:g.240576562C>T	GRCh38
NC_000002.11:g.241515979C>T , CM000664.1:g.241515979C>T	GRCh37
NC_000002.10:g.241164652C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270357.10:c.1538C>T MANE Select	ENSP00000270357.4:p.Ala513Val
ENST00000270357.8:c.845C>T	ENSP00000270357.3:p.Ala282Val
ENST00000437406.1:c.110-6C>T	ENSP00000403319.1:n.110-6C>T
ENST00000451363.5:c.179C>T	ENSP00000414661.1:p.Ala60Val
ENST00000464550.5:n.374C>T
ENST00000471657.1:n.341C>T
ENST00000481757.5:n.2472C>T
ENST00000486058.5:n.1651C>T
ENST00000493398.5:n.684C>T
NM_018226.4:c.1538C>T	NP_060696.4:p.Ala513Val
XM_005247036.3:c.1511-6C>T	XP_005247093.1:n.1511-6C>T
NM_018226.5:c.1538C>T	NP_060696.4:p.Ala513Val
XM_005247036.4:c.1511-6C>T	XP_005247093.1:n.1511-6C>T
NM_018226.6:c.1538C>T MANE Select	NP_060696.4:p.Ala513Val