Canonical Allele Identifier: CA1339183842

Gene: RNPEPL1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240576324T= , CM000664.2:g.240576324T=	GRCh38
NC_000002.11:g.241515741T= , CM000664.1:g.241515741T=	GRCh37
NC_000002.10:g.241164414T=	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270357.10:c.1511-211T= MANE Select	ENSP00000270357.4:n.1511-211T=
ENST00000270357.8:c.818-211T=	ENSP00000270357.3:n.818-211T=
ENST00000437406.1:c.110-244T=	ENSP00000403319.1:n.110-244T=
ENST00000451363.5:c.152-211T=	ENSP00000414661.1:n.152-211T=
ENST00000464550.5:n.347-211T=
ENST00000471657.1:n.314-211T=
ENST00000481757.5:n.2234T=
ENST00000486058.5:n.1624-211T=
ENST00000493398.5:n.657-211T=
NM_018226.4:c.1511-211T=	NP_060696.4:n.1511-211T=
XM_005247036.3:c.1511-244T=	XP_005247093.1:n.1511-244T=
NM_018226.5:c.1511-211T=	NP_060696.4:n.1511-211T=
XM_005247036.4:c.1511-244T=	XP_005247093.1:n.1511-244T=
NM_018226.6:c.1511-211T= MANE Select	NP_060696.4:n.1511-211T=