Canonical Allele Identifier: CA351286246

Gene: RNPEPL1

Linked Data

• MyVariant Identifiers: chr2:g.241516050T>C (hg19) ; chr2:g.240576633T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240576633T>C , CM000664.2:g.240576633T>C	GRCh38
NC_000002.11:g.241516050T>C , CM000664.1:g.241516050T>C	GRCh37
NC_000002.10:g.241164723T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270357.10:c.1609T>C MANE Select	ENSP00000270357.4:p.Phe537Leu
ENST00000270357.8:c.916T>C	ENSP00000270357.3:p.Phe306Leu
ENST00000437406.1:c.175T>C	ENSP00000403319.1:p.Phe59Leu
ENST00000451363.5:c.250T>C	ENSP00000414661.1:p.Phe84Leu
ENST00000464550.5:n.445T>C
ENST00000471657.1:n.412T>C
ENST00000481757.5:n.2543T>C
ENST00000486058.5:n.1722T>C
ENST00000493398.5:n.755T>C
NM_018226.4:c.1609T>C	NP_060696.4:p.Phe537Leu
XM_005247036.3:c.1576T>C	XP_005247093.1:p.Phe526Leu
NM_018226.5:c.1609T>C	NP_060696.4:p.Phe537Leu
XM_005247036.4:c.1576T>C	XP_005247093.1:p.Phe526Leu
NM_018226.6:c.1609T>C MANE Select	NP_060696.4:p.Phe537Leu