Canonical Allele Identifier: CA2205179

Gene: RNPEPL1

Linked Data

• dbSNP Id: rs373536717
• ExAC: 2:241516066 C / T
• gnomAD v2: 2-241516066-C-T
• MyVariant Identifiers: chr2:g.241516066C>T (hg19) ; chr2:g.240576649C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240576649C>T , CM000664.2:g.240576649C>T	GRCh38
NC_000002.11:g.241516066C>T , CM000664.1:g.241516066C>T	GRCh37
NC_000002.10:g.241164739C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270357.10:c.1625C>T MANE Select	ENSP00000270357.4:p.Ala542Val
ENST00000270357.8:c.932C>T	ENSP00000270357.3:p.Ala311Val
ENST00000437406.1:c.191C>T	ENSP00000403319.1:p.Ala64Val
ENST00000451363.5:c.266C>T	ENSP00000414661.1:p.Ala89Val
ENST00000464550.5:n.461C>T
ENST00000471657.1:n.428C>T
ENST00000481757.5:n.2559C>T
ENST00000486058.5:n.1738C>T
ENST00000493398.5:n.771C>T
NM_018226.4:c.1625C>T	NP_060696.4:p.Ala542Val
XM_005247036.3:c.1592C>T	XP_005247093.1:p.Ala531Val
NM_018226.5:c.1625C>T	NP_060696.4:p.Ala542Val
XM_005247036.4:c.1592C>T	XP_005247093.1:p.Ala531Val
NM_018226.6:c.1625C>T MANE Select	NP_060696.4:p.Ala542Val