Canonical Allele Identifier: CA351285859

Gene: RNPEPL1

Linked Data

• MyVariant Identifiers: chr2:g.241515962C>A (hg19) ; chr2:g.240576545C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240576545C>A , CM000664.2:g.240576545C>A	GRCh38
NC_000002.11:g.241515962C>A , CM000664.1:g.241515962C>A	GRCh37
NC_000002.10:g.241164635C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270357.10:c.1521C>A MANE Select	ENSP00000270357.4:p.Phe507Leu
ENST00000270357.8:c.828C>A	ENSP00000270357.3:p.Phe276Leu
ENST00000437406.1:c.110-23C>A	ENSP00000403319.1:n.110-23C>A
ENST00000451363.5:c.162C>A	ENSP00000414661.1:p.Phe54Leu
ENST00000464550.5:n.357C>A
ENST00000471657.1:n.324C>A
ENST00000481757.5:n.2455C>A
ENST00000486058.5:n.1634C>A
ENST00000493398.5:n.667C>A
NM_018226.4:c.1521C>A	NP_060696.4:p.Phe507Leu
XM_005247036.3:c.1511-23C>A	XP_005247093.1:n.1511-23C>A
NM_018226.5:c.1521C>A	NP_060696.4:p.Phe507Leu
XM_005247036.4:c.1511-23C>A	XP_005247093.1:n.1511-23C>A
NM_018226.6:c.1521C>A MANE Select	NP_060696.4:p.Phe507Leu