Canonical Allele Identifier: CA351285863

Gene: RNPEPL1

Linked Data

• MyVariant Identifiers: chr2:g.241515964A>C (hg19) ; chr2:g.240576547A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240576547A>C , CM000664.2:g.240576547A>C	GRCh38
NC_000002.11:g.241515964A>C , CM000664.1:g.241515964A>C	GRCh37
NC_000002.10:g.241164637A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270357.10:c.1523A>C MANE Select	ENSP00000270357.4:p.Glu508Ala
ENST00000270357.8:c.830A>C	ENSP00000270357.3:p.Glu277Ala
ENST00000437406.1:c.110-21A>C	ENSP00000403319.1:n.110-21A>C
ENST00000451363.5:c.164A>C	ENSP00000414661.1:p.Glu55Ala
ENST00000464550.5:n.359A>C
ENST00000471657.1:n.326A>C
ENST00000481757.5:n.2457A>C
ENST00000486058.5:n.1636A>C
ENST00000493398.5:n.669A>C
NM_018226.4:c.1523A>C	NP_060696.4:p.Glu508Ala
XM_005247036.3:c.1511-21A>C	XP_005247093.1:n.1511-21A>C
NM_018226.5:c.1523A>C	NP_060696.4:p.Glu508Ala
XM_005247036.4:c.1511-21A>C	XP_005247093.1:n.1511-21A>C
NM_018226.6:c.1523A>C MANE Select	NP_060696.4:p.Glu508Ala