Canonical Allele Identifier: CA432232478

Gene: RNPEPL1

Linked Data

• dbSNP Id: rs2093038411
• gnomAD v4: 2-240576632-T-C
• MyVariant Identifiers: chr2:g.241516049T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240576632T>C , CM000664.2:g.240576632T>C	GRCh38
NC_000002.11:g.241516049T>C , CM000664.1:g.241516049T>C	GRCh37
NC_000002.10:g.241164722T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270357.10:c.1608T>C MANE Select	ENSP00000270357.4:p.Leu536=
ENST00000270357.8:c.915T>C	ENSP00000270357.3:p.Leu305=
ENST00000437406.1:c.174T>C	ENSP00000403319.1:p.Leu58=
ENST00000451363.5:c.249T>C	ENSP00000414661.1:p.Leu83=
ENST00000464550.5:n.444T>C
ENST00000471657.1:n.411T>C
ENST00000481757.5:n.2542T>C
ENST00000486058.5:n.1721T>C
ENST00000493398.5:n.754T>C
NM_018226.4:c.1608T>C	NP_060696.4:p.Leu536=
XM_005247036.3:c.1575T>C	XP_005247093.1:p.Leu525=
NM_018226.5:c.1608T>C	NP_060696.4:p.Leu536=
XM_005247036.4:c.1575T>C	XP_005247093.1:p.Leu525=
NM_018226.6:c.1608T>C MANE Select	NP_060696.4:p.Leu536=