Canonical Allele Identifier: CA1339183673
Gene: RNPEPL1 HGNC NCBI

Linked Data

dbSNP Id: rs2093036544
gnomAD v4: 2-240576023-T-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240576023T>C , CM000664.2:g.240576023T>C GRCh38
NC_000002.11:g.241515440T>C , CM000664.1:g.241515440T>C GRCh37
NC_000002.10:g.241164113T>C NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000270357.10:c.1510+413T>C MANE Select ENSP00000270357.4:n.1510+413T>C
ENST00000270357.8:c.817+413T>C ENSP00000270357.3:n.817+413T>C
ENST00000437406.1:c.109+413T>C ENSP00000403319.1:n.109+413T>C
ENST00000451363.5:c.151+413T>C ENSP00000414661.1:n.151+413T>C
ENST00000464550.5:n.346+413T>C
ENST00000471657.1:n.313+413T>C
ENST00000481757.5:n.1933T>C
ENST00000486058.5:n.1623+413T>C
ENST00000493398.5:n.656+413T>C
NM_018226.4:c.1510+413T>C NP_060696.4:n.1510+413T>C
XM_005247036.3:c.1510+413T>C XP_005247093.1:n.1510+413T>C
NM_018226.5:c.1510+413T>C NP_060696.4:n.1510+413T>C
XM_005247036.4:c.1510+413T>C XP_005247093.1:n.1510+413T>C
NM_018226.6:c.1510+413T>C MANE Select NP_060696.4:n.1510+413T>C
Search 100 bp 5'
Search 100 bp 3'