Canonical Allele Identifier: CA351286058

Gene: RNPEPL1

Linked Data

• MyVariant Identifiers: chr2:g.241516012C>T (hg19) ; chr2:g.240576595C>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270357.10:c.1571C>T MANE Select	ENSP00000270357.4:p.Ser524Phe
ENST00000270357.8:c.878C>T	ENSP00000270357.3:p.Ser293Phe
ENST00000437406.1:c.137C>T	ENSP00000403319.1:p.Ser46Phe
ENST00000451363.5:c.212C>T	ENSP00000414661.1:p.Ser71Phe
ENST00000464550.5:n.407C>T
ENST00000471657.1:n.374C>T
ENST00000481757.5:n.2505C>T
ENST00000486058.5:n.1684C>T
ENST00000493398.5:n.717C>T
NM_018226.4:c.1571C>T	NP_060696.4:p.Ser524Phe
XM_005247036.3:c.1538C>T	XP_005247093.1:p.Ser513Phe
NM_018226.5:c.1571C>T	NP_060696.4:p.Ser524Phe
XM_005247036.4:c.1538C>T	XP_005247093.1:p.Ser513Phe
NM_018226.6:c.1571C>T MANE Select	NP_060696.4:p.Ser524Phe