Canonical Allele Identifier: CA351285844

Gene: RNPEPL1

Linked Data

• MyVariant Identifiers: chr2:g.241515955T>A (hg19) ; chr2:g.240576538T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240576538T>A , CM000664.2:g.240576538T>A	GRCh38
NC_000002.11:g.241515955T>A , CM000664.1:g.241515955T>A	GRCh37
NC_000002.10:g.241164628T>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270357.10:c.1514T>A MANE Select	ENSP00000270357.4:p.Leu505Gln
ENST00000270357.8:c.821T>A	ENSP00000270357.3:p.Leu274Gln
ENST00000437406.1:c.110-30T>A	ENSP00000403319.1:n.110-30T>A
ENST00000451363.5:c.155T>A	ENSP00000414661.1:p.Leu52Gln
ENST00000464550.5:n.350T>A
ENST00000471657.1:n.317T>A
ENST00000481757.5:n.2448T>A
ENST00000486058.5:n.1627T>A
ENST00000493398.5:n.660T>A
NM_018226.4:c.1514T>A	NP_060696.4:p.Leu505Gln
XM_005247036.3:c.1511-30T>A	XP_005247093.1:n.1511-30T>A
NM_018226.5:c.1514T>A	NP_060696.4:p.Leu505Gln
XM_005247036.4:c.1511-30T>A	XP_005247093.1:n.1511-30T>A
NM_018226.6:c.1514T>A MANE Select	NP_060696.4:p.Leu505Gln