Canonical Allele Identifier: CA351286063

Gene: RNPEPL1

Linked Data

• gnomAD v4: 2-240576598-A-T
• MyVariant Identifiers: chr2:g.241516015A>T (hg19) ; chr2:g.240576598A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240576598A>T , CM000664.2:g.240576598A>T	GRCh38
NC_000002.11:g.241516015A>T , CM000664.1:g.241516015A>T	GRCh37
NC_000002.10:g.241164688A>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270357.10:c.1574A>T MANE Select	ENSP00000270357.4:p.Gln525Leu
ENST00000270357.8:c.881A>T	ENSP00000270357.3:p.Gln294Leu
ENST00000437406.1:c.140A>T	ENSP00000403319.1:p.Gln47Leu
ENST00000451363.5:c.215A>T	ENSP00000414661.1:p.Gln72Leu
ENST00000464550.5:n.410A>T
ENST00000471657.1:n.377A>T
ENST00000481757.5:n.2508A>T
ENST00000486058.5:n.1687A>T
ENST00000493398.5:n.720A>T
NM_018226.4:c.1574A>T	NP_060696.4:p.Gln525Leu
XM_005247036.3:c.1541A>T	XP_005247093.1:p.Gln514Leu
NM_018226.5:c.1574A>T	NP_060696.4:p.Gln525Leu
XM_005247036.4:c.1541A>T	XP_005247093.1:p.Gln514Leu
NM_018226.6:c.1574A>T MANE Select	NP_060696.4:p.Gln525Leu