Canonical Allele Identifier: CA351285831

Gene: RNPEPL1

Linked Data

• MyVariant Identifiers: chr2:g.241515950A>C (hg19) ; chr2:g.240576533A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240576533A>C , CM000664.2:g.240576533A>C	GRCh38
NC_000002.11:g.241515950A>C , CM000664.1:g.241515950A>C	GRCh37
NC_000002.10:g.241164623A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270357.10:c.1511-2A>C MANE Select	ENSP00000270357.4:n.1511-2A>C
ENST00000270357.8:c.818-2A>C	ENSP00000270357.3:n.818-2A>C
ENST00000437406.1:c.110-35A>C	ENSP00000403319.1:n.110-35A>C
ENST00000451363.5:c.152-2A>C	ENSP00000414661.1:n.152-2A>C
ENST00000464550.5:n.347-2A>C
ENST00000471657.1:n.314-2A>C
ENST00000481757.5:n.2443A>C
ENST00000486058.5:n.1624-2A>C
ENST00000493398.5:n.657-2A>C
NM_018226.4:c.1511-2A>C	NP_060696.4:n.1511-2A>C
XM_005247036.3:c.1511-35A>C	XP_005247093.1:n.1511-35A>C
NM_018226.5:c.1511-2A>C	NP_060696.4:n.1511-2A>C
XM_005247036.4:c.1511-35A>C	XP_005247093.1:n.1511-35A>C
NM_018226.6:c.1511-2A>C MANE Select	NP_060696.4:n.1511-2A>C