Canonical Allele Identifier: CA647814303
Gene: RNPEPL1 HGNC NCBI

Linked Data

COSMIC: COSN14984463
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240576043G>C , CM000664.2:g.240576043G>C GRCh38
NC_000002.11:g.241515460G>C , CM000664.1:g.241515460G>C GRCh37
NC_000002.10:g.241164133G>C NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000270357.10:c.1510+433G>C MANE Select ENSP00000270357.4:n.1510+433G>C
ENST00000270357.8:c.817+433G>C ENSP00000270357.3:n.817+433G>C
ENST00000437406.1:c.109+433G>C ENSP00000403319.1:n.109+433G>C
ENST00000451363.5:c.151+433G>C ENSP00000414661.1:n.151+433G>C
ENST00000464550.5:n.346+433G>C
ENST00000471657.1:n.313+433G>C
ENST00000481757.5:n.1953G>C
ENST00000486058.5:n.1623+433G>C
ENST00000493398.5:n.656+433G>C
NM_018226.4:c.1510+433G>C NP_060696.4:n.1510+433G>C
XM_005247036.3:c.1510+433G>C XP_005247093.1:n.1510+433G>C
NM_018226.5:c.1510+433G>C NP_060696.4:n.1510+433G>C
XM_005247036.4:c.1510+433G>C XP_005247093.1:n.1510+433G>C
NM_018226.6:c.1510+433G>C MANE Select NP_060696.4:n.1510+433G>C
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