Canonical Allele Identifier: CA1339183978

Gene: RNPEPL1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240576627G= , CM000664.2:g.240576627G=	GRCh38
NC_000002.11:g.241516044G= , CM000664.1:g.241516044G=	GRCh37
NC_000002.10:g.241164717G=	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270357.10:c.1603G= MANE Select	ENSP00000270357.4:p.Ala535=
ENST00000270357.8:c.910G=	ENSP00000270357.3:p.Ala304=
ENST00000437406.1:c.169G=	ENSP00000403319.1:p.Ala57=
ENST00000451363.5:c.244G=	ENSP00000414661.1:p.Ala82=
ENST00000464550.5:n.439G=
ENST00000471657.1:n.406G=
ENST00000481757.5:n.2537G=
ENST00000486058.5:n.1716G=
ENST00000493398.5:n.749G=
NM_018226.4:c.1603G=	NP_060696.4:p.Ala535=
XM_005247036.3:c.1570G=	XP_005247093.1:p.Ala524=
NM_018226.5:c.1603G=	NP_060696.4:p.Ala535=
XM_005247036.4:c.1570G=	XP_005247093.1:p.Ala524=
NM_018226.6:c.1603G= MANE Select	NP_060696.4:p.Ala535=