Canonical Allele Identifier: CA1339183971

Gene: RNPEPL1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240576604C= , CM000664.2:g.240576604C=	GRCh38
NC_000002.11:g.241516021C= , CM000664.1:g.241516021C=	GRCh37
NC_000002.10:g.241164694C=	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270357.10:c.1580C= MANE Select	ENSP00000270357.4:p.Ser527=
ENST00000270357.8:c.887C=	ENSP00000270357.3:p.Ser296=
ENST00000437406.1:c.146C=	ENSP00000403319.1:p.Ser49=
ENST00000451363.5:c.221C=	ENSP00000414661.1:p.Ser74=
ENST00000464550.5:n.416C=
ENST00000471657.1:n.383C=
ENST00000481757.5:n.2514C=
ENST00000486058.5:n.1693C=
ENST00000493398.5:n.726C=
NM_018226.4:c.1580C=	NP_060696.4:p.Ser527=
XM_005247036.3:c.1547C=	XP_005247093.1:p.Ser516=
NM_018226.5:c.1580C=	NP_060696.4:p.Ser527=
XM_005247036.4:c.1547C=	XP_005247093.1:p.Ser516=
NM_018226.6:c.1580C= MANE Select	NP_060696.4:p.Ser527=