Canonical Allele Identifier: CA1339183982

Gene: RNPEPL1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240576637A= , CM000664.2:g.240576637A=	GRCh38
NC_000002.11:g.241516054A= , CM000664.1:g.241516054A=	GRCh37
NC_000002.10:g.241164727A=	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270357.10:c.1613A= MANE Select	ENSP00000270357.4:p.Gln538=
ENST00000270357.8:c.920A=	ENSP00000270357.3:p.Gln307=
ENST00000437406.1:c.179A=	ENSP00000403319.1:p.Gln60=
ENST00000451363.5:c.254A=	ENSP00000414661.1:p.Gln85=
ENST00000464550.5:n.449A=
ENST00000471657.1:n.416A=
ENST00000481757.5:n.2547A=
ENST00000486058.5:n.1726A=
ENST00000493398.5:n.759A=
NM_018226.4:c.1613A=	NP_060696.4:p.Gln538=
XM_005247036.3:c.1580A=	XP_005247093.1:p.Gln527=
NM_018226.5:c.1613A=	NP_060696.4:p.Gln538=
XM_005247036.4:c.1580A=	XP_005247093.1:p.Gln527=
NM_018226.6:c.1613A= MANE Select	NP_060696.4:p.Gln538=