Canonical Allele Identifier: CA2205178

Gene: RNPEPL1

Linked Data

• dbSNP Id: rs543369403
• ExAC: 2:241516064 C / T
• gnomAD v2: 2-241516064-C-T
• gnomAD v3: 2-240576647-C-T
• gnomAD v4: 2-240576647-C-T
• MyVariant Identifiers: chr2:g.241516064C>T (hg19) ; chr2:g.240576647C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240576647C>T , CM000664.2:g.240576647C>T	GRCh38
NC_000002.11:g.241516064C>T , CM000664.1:g.241516064C>T	GRCh37
NC_000002.10:g.241164737C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270357.10:c.1623C>T MANE Select	ENSP00000270357.4:p.Thr541=
ENST00000270357.8:c.930C>T	ENSP00000270357.3:p.Thr310=
ENST00000437406.1:c.189C>T	ENSP00000403319.1:p.Thr63=
ENST00000451363.5:c.264C>T	ENSP00000414661.1:p.Thr88=
ENST00000464550.5:n.459C>T
ENST00000471657.1:n.426C>T
ENST00000481757.5:n.2557C>T
ENST00000486058.5:n.1736C>T
ENST00000493398.5:n.769C>T
NM_018226.4:c.1623C>T	NP_060696.4:p.Thr541=
XM_005247036.3:c.1590C>T	XP_005247093.1:p.Thr530=
NM_018226.5:c.1623C>T	NP_060696.4:p.Thr541=
XM_005247036.4:c.1590C>T	XP_005247093.1:p.Thr530=
NM_018226.6:c.1623C>T MANE Select	NP_060696.4:p.Thr541=