Canonical Allele Identifier: CA432232344

Gene: RNPEPL1

Linked Data

• MyVariant Identifiers: chr2:g.241515986C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240576569C>T , CM000664.2:g.240576569C>T	GRCh38
NC_000002.11:g.241515986C>T , CM000664.1:g.241515986C>T	GRCh37
NC_000002.10:g.241164659C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270357.10:c.1545C>T MANE Select	ENSP00000270357.4:p.Gly515=
ENST00000270357.8:c.852C>T	ENSP00000270357.3:p.Gly284=
ENST00000437406.1:c.111C>T	ENSP00000403319.1:p.Gly37=
ENST00000451363.5:c.186C>T	ENSP00000414661.1:p.Gly62=
ENST00000464550.5:n.381C>T
ENST00000471657.1:n.348C>T
ENST00000481757.5:n.2479C>T
ENST00000486058.5:n.1658C>T
ENST00000493398.5:n.691C>T
NM_018226.4:c.1545C>T	NP_060696.4:p.Gly515=
XM_005247036.3:c.1512C>T	XP_005247093.1:p.Gly504=
NM_018226.5:c.1545C>T	NP_060696.4:p.Gly515=
XM_005247036.4:c.1512C>T	XP_005247093.1:p.Gly504=
NM_018226.6:c.1545C>T MANE Select	NP_060696.4:p.Gly515=