Canonical Allele Identifier: CA351286057
Gene: RNPEPL1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.241516012C>G (hg19) chr2:g.240576595C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240576595C>G , CM000664.2:g.240576595C>G GRCh38
NC_000002.11:g.241516012C>G , CM000664.1:g.241516012C>G GRCh37
NC_000002.10:g.241164685C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000270357.10:c.1571C>G MANE Select ENSP00000270357.4:p.Ser524Cys
ENST00000270357.8:c.878C>G ENSP00000270357.3:p.Ser293Cys
ENST00000437406.1:c.137C>G ENSP00000403319.1:p.Ser46Cys
ENST00000451363.5:c.212C>G ENSP00000414661.1:p.Ser71Cys
ENST00000464550.5:n.407C>G
ENST00000471657.1:n.374C>G
ENST00000481757.5:n.2505C>G
ENST00000486058.5:n.1684C>G
ENST00000493398.5:n.717C>G
NM_018226.4:c.1571C>G NP_060696.4:p.Ser524Cys
XM_005247036.3:c.1538C>G XP_005247093.1:p.Ser513Cys
NM_018226.5:c.1571C>G NP_060696.4:p.Ser524Cys
XM_005247036.4:c.1538C>G XP_005247093.1:p.Ser513Cys
NM_018226.6:c.1571C>G MANE Select NP_060696.4:p.Ser524Cys
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