Canonical Allele Identifier: CA540752272

Gene: RNPEPL1

Linked Data

• dbSNP Id: rs1385998416
• gnomAD v2: 2-241515886-G-C
• gnomAD v3: 2-240576469-G-C
• gnomAD v4: 2-240576469-G-C
• MyVariant Identifiers: chr2:g.241515886G>C (hg19) ; chr2:g.240576469G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240576469G>C , CM000664.2:g.240576469G>C	GRCh38
NC_000002.11:g.241515886G>C , CM000664.1:g.241515886G>C	GRCh37
NC_000002.10:g.241164559G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270357.10:c.1511-66G>C MANE Select	ENSP00000270357.4:n.1511-66G>C
ENST00000270357.8:c.818-66G>C	ENSP00000270357.3:n.818-66G>C
ENST00000437406.1:c.110-99G>C	ENSP00000403319.1:n.110-99G>C
ENST00000451363.5:c.152-66G>C	ENSP00000414661.1:n.152-66G>C
ENST00000464550.5:n.347-66G>C
ENST00000471657.1:n.314-66G>C
ENST00000481757.5:n.2379G>C
ENST00000486058.5:n.1624-66G>C
ENST00000493398.5:n.657-66G>C
NM_018226.4:c.1511-66G>C	NP_060696.4:n.1511-66G>C
XM_005247036.3:c.1511-99G>C	XP_005247093.1:n.1511-99G>C
NM_018226.5:c.1511-66G>C	NP_060696.4:n.1511-66G>C
XM_005247036.4:c.1511-99G>C	XP_005247093.1:n.1511-99G>C
NM_018226.6:c.1511-66G>C MANE Select	NP_060696.4:n.1511-66G>C