Canonical Allele Identifier: CA432232360

Gene: RNPEPL1

Linked Data

• dbSNP Id: rs2093038272
• MyVariant Identifiers: chr2:g.241515993C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240576576C>T , CM000664.2:g.240576576C>T	GRCh38
NC_000002.11:g.241515993C>T , CM000664.1:g.241515993C>T	GRCh37
NC_000002.10:g.241164666C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270357.10:c.1552C>T MANE Select	ENSP00000270357.4:p.Leu518=
ENST00000270357.8:c.859C>T	ENSP00000270357.3:p.Leu287=
ENST00000437406.1:c.118C>T	ENSP00000403319.1:p.Leu40=
ENST00000451363.5:c.193C>T	ENSP00000414661.1:p.Leu65=
ENST00000464550.5:n.388C>T
ENST00000471657.1:n.355C>T
ENST00000481757.5:n.2486C>T
ENST00000486058.5:n.1665C>T
ENST00000493398.5:n.698C>T
NM_018226.4:c.1552C>T	NP_060696.4:p.Leu518=
XM_005247036.3:c.1519C>T	XP_005247093.1:p.Leu507=
NM_018226.5:c.1552C>T	NP_060696.4:p.Leu518=
XM_005247036.4:c.1519C>T	XP_005247093.1:p.Leu507=
NM_018226.6:c.1552C>T MANE Select	NP_060696.4:p.Leu518=