Canonical Allele Identifier: CA351286030

Gene: RNPEPL1

Linked Data

• MyVariant Identifiers: chr2:g.241516005G>C (hg19) ; chr2:g.240576588G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240576588G>C , CM000664.2:g.240576588G>C	GRCh38
NC_000002.11:g.241516005G>C , CM000664.1:g.241516005G>C	GRCh37
NC_000002.10:g.241164678G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270357.10:c.1564G>C MANE Select	ENSP00000270357.4:p.Asp522His
ENST00000270357.8:c.871G>C	ENSP00000270357.3:p.Asp291His
ENST00000437406.1:c.130G>C	ENSP00000403319.1:p.Asp44His
ENST00000451363.5:c.205G>C	ENSP00000414661.1:p.Asp69His
ENST00000464550.5:n.400G>C
ENST00000471657.1:n.367G>C
ENST00000481757.5:n.2498G>C
ENST00000486058.5:n.1677G>C
ENST00000493398.5:n.710G>C
NM_018226.4:c.1564G>C	NP_060696.4:p.Asp522His
XM_005247036.3:c.1531G>C	XP_005247093.1:p.Asp511His
NM_018226.5:c.1564G>C	NP_060696.4:p.Asp522His
XM_005247036.4:c.1531G>C	XP_005247093.1:p.Asp511His
NM_018226.6:c.1564G>C MANE Select	NP_060696.4:p.Asp522His