Canonical Allele Identifier: CA351286251

Gene: RNPEPL1

Linked Data

• MyVariant Identifiers: chr2:g.241516051T>A (hg19) ; chr2:g.240576634T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240576634T>A , CM000664.2:g.240576634T>A	GRCh38
NC_000002.11:g.241516051T>A , CM000664.1:g.241516051T>A	GRCh37
NC_000002.10:g.241164724T>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270357.10:c.1610T>A MANE Select	ENSP00000270357.4:p.Phe537Tyr
ENST00000270357.8:c.917T>A	ENSP00000270357.3:p.Phe306Tyr
ENST00000437406.1:c.176T>A	ENSP00000403319.1:p.Phe59Tyr
ENST00000451363.5:c.251T>A	ENSP00000414661.1:p.Phe84Tyr
ENST00000464550.5:n.446T>A
ENST00000471657.1:n.413T>A
ENST00000481757.5:n.2544T>A
ENST00000486058.5:n.1723T>A
ENST00000493398.5:n.756T>A
NM_018226.4:c.1610T>A	NP_060696.4:p.Phe537Tyr
XM_005247036.3:c.1577T>A	XP_005247093.1:p.Phe526Tyr
NM_018226.5:c.1610T>A	NP_060696.4:p.Phe537Tyr
XM_005247036.4:c.1577T>A	XP_005247093.1:p.Phe526Tyr
NM_018226.6:c.1610T>A MANE Select	NP_060696.4:p.Phe537Tyr