Canonical Allele Identifier: CA351286226

Gene: RNPEPL1

Linked Data

• gnomAD v4: 2-240576630-C-T
• MyVariant Identifiers: chr2:g.241516047C>T (hg19) ; chr2:g.240576630C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240576630C>T , CM000664.2:g.240576630C>T	GRCh38
NC_000002.11:g.241516047C>T , CM000664.1:g.241516047C>T	GRCh37
NC_000002.10:g.241164720C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270357.10:c.1606C>T MANE Select	ENSP00000270357.4:p.Leu536Phe
ENST00000270357.8:c.913C>T	ENSP00000270357.3:p.Leu305Phe
ENST00000437406.1:c.172C>T	ENSP00000403319.1:p.Leu58Phe
ENST00000451363.5:c.247C>T	ENSP00000414661.1:p.Leu83Phe
ENST00000464550.5:n.442C>T
ENST00000471657.1:n.409C>T
ENST00000481757.5:n.2540C>T
ENST00000486058.5:n.1719C>T
ENST00000493398.5:n.752C>T
NM_018226.4:c.1606C>T	NP_060696.4:p.Leu536Phe
XM_005247036.3:c.1573C>T	XP_005247093.1:p.Leu525Phe
NM_018226.5:c.1606C>T	NP_060696.4:p.Leu536Phe
XM_005247036.4:c.1573C>T	XP_005247093.1:p.Leu525Phe
NM_018226.6:c.1606C>T MANE Select	NP_060696.4:p.Leu536Phe