Canonical Allele Identifier: CA351286363

Gene: RNPEPL1

Linked Data

• MyVariant Identifiers: chr2:g.241516075T>A (hg19) ; chr2:g.240576658T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240576658T>A , CM000664.2:g.240576658T>A	GRCh38
NC_000002.11:g.241516075T>A , CM000664.1:g.241516075T>A	GRCh37
NC_000002.10:g.241164748T>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270357.10:c.1634T>A MANE Select	ENSP00000270357.4:p.Leu545Gln
ENST00000270357.8:c.941T>A	ENSP00000270357.3:p.Leu314Gln
ENST00000437406.1:c.200T>A	ENSP00000403319.1:p.Leu67Gln
ENST00000451363.5:c.275T>A	ENSP00000414661.1:p.Leu92Gln
ENST00000464550.5:n.470T>A
ENST00000471657.1:n.437T>A
ENST00000481757.5:n.2568T>A
ENST00000486058.5:n.1747T>A
ENST00000493398.5:n.780T>A
NM_018226.4:c.1634T>A	NP_060696.4:p.Leu545Gln
XM_005247036.3:c.1601T>A	XP_005247093.1:p.Leu534Gln
NM_018226.5:c.1634T>A	NP_060696.4:p.Leu545Gln
XM_005247036.4:c.1601T>A	XP_005247093.1:p.Leu534Gln
NM_018226.6:c.1634T>A MANE Select	NP_060696.4:p.Leu545Gln