Canonical Allele Identifier: CA1339183979

Gene: RNPEPL1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240576628C= , CM000664.2:g.240576628C=	GRCh38
NC_000002.11:g.241516045C= , CM000664.1:g.241516045C=	GRCh37
NC_000002.10:g.241164718C=	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270357.10:c.1604C= MANE Select	ENSP00000270357.4:p.Ala535=
ENST00000270357.8:c.911C=	ENSP00000270357.3:p.Ala304=
ENST00000437406.1:c.170C=	ENSP00000403319.1:p.Ala57=
ENST00000451363.5:c.245C=	ENSP00000414661.1:p.Ala82=
ENST00000464550.5:n.440C=
ENST00000471657.1:n.407C=
ENST00000481757.5:n.2538C=
ENST00000486058.5:n.1717C=
ENST00000493398.5:n.750C=
NM_018226.4:c.1604C=	NP_060696.4:p.Ala535=
XM_005247036.3:c.1571C=	XP_005247093.1:p.Ala524=
NM_018226.5:c.1604C=	NP_060696.4:p.Ala535=
XM_005247036.4:c.1571C=	XP_005247093.1:p.Ala524=
NM_018226.6:c.1604C= MANE Select	NP_060696.4:p.Ala535=