Canonical Allele Identifier: CA2663966415

Gene: RNPEPL1

Linked Data

• gnomAD v4: 2-240575890-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240575890T>C , CM000664.2:g.240575890T>C	GRCh38
NC_000002.11:g.241515307T>C , CM000664.1:g.241515307T>C	GRCh37
NC_000002.10:g.241163980T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270357.10:c.1510+280T>C MANE Select	ENSP00000270357.4:n.1510+280T>C
ENST00000270357.8:c.817+280T>C	ENSP00000270357.3:n.817+280T>C
ENST00000437406.1:c.109+280T>C	ENSP00000403319.1:n.109+280T>C
ENST00000451363.5:c.151+280T>C	ENSP00000414661.1:n.151+280T>C
ENST00000464550.5:n.346+280T>C
ENST00000471657.1:n.313+280T>C
ENST00000481757.5:n.1800T>C
ENST00000486058.5:n.1623+280T>C
ENST00000493398.5:n.656+280T>C
NM_018226.4:c.1510+280T>C	NP_060696.4:n.1510+280T>C
XM_005247036.3:c.1510+280T>C	XP_005247093.1:n.1510+280T>C
NM_018226.5:c.1510+280T>C	NP_060696.4:n.1510+280T>C
XM_005247036.4:c.1510+280T>C	XP_005247093.1:n.1510+280T>C
NM_018226.6:c.1510+280T>C MANE Select	NP_060696.4:n.1510+280T>C