Canonical Allele Identifier: CA2663966592

Gene: RNPEPL1

Linked Data

• gnomAD v4: 2-240575929-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240575929G>T , CM000664.2:g.240575929G>T	GRCh38
NC_000002.11:g.241515346G>T , CM000664.1:g.241515346G>T	GRCh37
NC_000002.10:g.241164019G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270357.10:c.1510+319G>T MANE Select	ENSP00000270357.4:n.1510+319G>T
ENST00000270357.8:c.817+319G>T	ENSP00000270357.3:n.817+319G>T
ENST00000437406.1:c.109+319G>T	ENSP00000403319.1:n.109+319G>T
ENST00000451363.5:c.151+319G>T	ENSP00000414661.1:n.151+319G>T
ENST00000464550.5:n.346+319G>T
ENST00000471657.1:n.313+319G>T
ENST00000481757.5:n.1839G>T
ENST00000486058.5:n.1623+319G>T
ENST00000493398.5:n.656+319G>T
NM_018226.4:c.1510+319G>T	NP_060696.4:n.1510+319G>T
XM_005247036.3:c.1510+319G>T	XP_005247093.1:n.1510+319G>T
NM_018226.5:c.1510+319G>T	NP_060696.4:n.1510+319G>T
XM_005247036.4:c.1510+319G>T	XP_005247093.1:n.1510+319G>T
NM_018226.6:c.1510+319G>T MANE Select	NP_060696.4:n.1510+319G>T