Canonical Allele Identifier: CA2663967185
Gene: RNPEPL1 HGNC NCBI

Linked Data

gnomAD v4: 2-240576083-G-C
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240576083G>C , CM000664.2:g.240576083G>C GRCh38
NC_000002.11:g.241515500G>C , CM000664.1:g.241515500G>C GRCh37
NC_000002.10:g.241164173G>C NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000270357.10:c.1511-452G>C MANE Select ENSP00000270357.4:n.1511-452G>C
ENST00000270357.8:c.818-452G>C ENSP00000270357.3:n.818-452G>C
ENST00000437406.1:c.109+473G>C ENSP00000403319.1:n.109+473G>C
ENST00000451363.5:c.152-452G>C ENSP00000414661.1:n.152-452G>C
ENST00000464550.5:n.347-452G>C
ENST00000471657.1:n.314-452G>C
ENST00000481757.5:n.1993G>C
ENST00000486058.5:n.1624-452G>C
ENST00000493398.5:n.657-452G>C
NM_018226.4:c.1511-452G>C NP_060696.4:n.1511-452G>C
XM_005247036.3:c.1510+473G>C XP_005247093.1:n.1510+473G>C
NM_018226.5:c.1511-452G>C NP_060696.4:n.1511-452G>C
XM_005247036.4:c.1510+473G>C XP_005247093.1:n.1510+473G>C
NM_018226.6:c.1511-452G>C MANE Select NP_060696.4:n.1511-452G>C
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