Canonical Allele Identifier: CA68116110

Gene: RNPEPL1

Linked Data

• dbSNP Id: rs769255993
• gnomAD v2: 2-241516032-C-T
• gnomAD v3: 2-240576615-C-T
• gnomAD v4: 2-240576615-C-T
• MyVariant Identifiers: chr2:g.241516032C>T (hg19) ; chr2:g.240576615C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240576615C>T , CM000664.2:g.240576615C>T	GRCh38
NC_000002.11:g.241516032C>T , CM000664.1:g.241516032C>T	GRCh37
NC_000002.10:g.241164705C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270357.10:c.1591C>T MANE Select	ENSP00000270357.4:p.Arg531Trp
ENST00000270357.8:c.898C>T	ENSP00000270357.3:p.Arg300Trp
ENST00000437406.1:c.157C>T	ENSP00000403319.1:p.Arg53Trp
ENST00000451363.5:c.232C>T	ENSP00000414661.1:p.Arg78Trp
ENST00000464550.5:n.427C>T
ENST00000471657.1:n.394C>T
ENST00000481757.5:n.2525C>T
ENST00000486058.5:n.1704C>T
ENST00000493398.5:n.737C>T
NM_018226.4:c.1591C>T	NP_060696.4:p.Arg531Trp
XM_005247036.3:c.1558C>T	XP_005247093.1:p.Arg520Trp
NM_018226.5:c.1591C>T	NP_060696.4:p.Arg531Trp
XM_005247036.4:c.1558C>T	XP_005247093.1:p.Arg520Trp
NM_018226.6:c.1591C>T MANE Select	NP_060696.4:p.Arg531Trp