Canonical Allele Identifier: CA1339183934
Gene: RNPEPL1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240576526C= , CM000664.2:g.240576526C= GRCh38
NC_000002.11:g.241515943C= , CM000664.1:g.241515943C= GRCh37
NC_000002.10:g.241164616C= NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000270357.10:c.1511-9C= MANE Select ENSP00000270357.4:n.1511-9C=
ENST00000270357.8:c.818-9C= ENSP00000270357.3:n.818-9C=
ENST00000437406.1:c.110-42C= ENSP00000403319.1:n.110-42C=
ENST00000451363.5:c.152-9C= ENSP00000414661.1:n.152-9C=
ENST00000464550.5:n.347-9C=
ENST00000471657.1:n.314-9C=
ENST00000481757.5:n.2436C=
ENST00000486058.5:n.1624-9C=
ENST00000493398.5:n.657-9C=
NM_018226.4:c.1511-9C= NP_060696.4:n.1511-9C=
XM_005247036.3:c.1511-42C= XP_005247093.1:n.1511-42C=
NM_018226.5:c.1511-9C= NP_060696.4:n.1511-9C=
XM_005247036.4:c.1511-42C= XP_005247093.1:n.1511-42C=
NM_018226.6:c.1511-9C= MANE Select NP_060696.4:n.1511-9C=
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