Canonical Allele Identifier: CA351286229

Gene: RNPEPL1

Linked Data

• MyVariant Identifiers: chr2:g.241516048T>A (hg19) ; chr2:g.240576631T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240576631T>A , CM000664.2:g.240576631T>A	GRCh38
NC_000002.11:g.241516048T>A , CM000664.1:g.241516048T>A	GRCh37
NC_000002.10:g.241164721T>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270357.10:c.1607T>A MANE Select	ENSP00000270357.4:p.Leu536His
ENST00000270357.8:c.914T>A	ENSP00000270357.3:p.Leu305His
ENST00000437406.1:c.173T>A	ENSP00000403319.1:p.Leu58His
ENST00000451363.5:c.248T>A	ENSP00000414661.1:p.Leu83His
ENST00000464550.5:n.443T>A
ENST00000471657.1:n.410T>A
ENST00000481757.5:n.2541T>A
ENST00000486058.5:n.1720T>A
ENST00000493398.5:n.753T>A
NM_018226.4:c.1607T>A	NP_060696.4:p.Leu536His
XM_005247036.3:c.1574T>A	XP_005247093.1:p.Leu525His
NM_018226.5:c.1607T>A	NP_060696.4:p.Leu536His
XM_005247036.4:c.1574T>A	XP_005247093.1:p.Leu525His
NM_018226.6:c.1607T>A MANE Select	NP_060696.4:p.Leu536His