Canonical Allele Identifier: CA1339183984

Gene: RNPEPL1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240576648G= , CM000664.2:g.240576648G=	GRCh38
NC_000002.11:g.241516065G= , CM000664.1:g.241516065G=	GRCh37
NC_000002.10:g.241164738G=	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270357.10:c.1624G= MANE Select	ENSP00000270357.4:p.Ala542=
ENST00000270357.8:c.931G=	ENSP00000270357.3:p.Ala311=
ENST00000437406.1:c.190G=	ENSP00000403319.1:p.Ala64=
ENST00000451363.5:c.265G=	ENSP00000414661.1:p.Ala89=
ENST00000464550.5:n.460G=
ENST00000471657.1:n.427G=
ENST00000481757.5:n.2558G=
ENST00000486058.5:n.1737G=
ENST00000493398.5:n.770G=
NM_018226.4:c.1624G=	NP_060696.4:p.Ala542=
XM_005247036.3:c.1591G=	XP_005247093.1:p.Ala531=
NM_018226.5:c.1624G=	NP_060696.4:p.Ala542=
XM_005247036.4:c.1591G=	XP_005247093.1:p.Ala531=
NM_018226.6:c.1624G= MANE Select	NP_060696.4:p.Ala542=