Canonical Allele Identifier: CA351286372

Gene: RNPEPL1

Linked Data

• MyVariant Identifiers: chr2:g.241516077G>C (hg19) ; chr2:g.240576660G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240576660G>C , CM000664.2:g.240576660G>C	GRCh38
NC_000002.11:g.241516077G>C , CM000664.1:g.241516077G>C	GRCh37
NC_000002.10:g.241164750G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270357.10:c.1636G>C MANE Select	ENSP00000270357.4:p.Asp546His
ENST00000270357.8:c.943G>C	ENSP00000270357.3:p.Asp315His
ENST00000437406.1:c.202G>C	ENSP00000403319.1:p.Asp68His
ENST00000451363.5:c.277G>C	ENSP00000414661.1:p.Asp93His
ENST00000464550.5:n.472G>C
ENST00000471657.1:n.439G>C
ENST00000481757.5:n.2570G>C
ENST00000486058.5:n.1749G>C
ENST00000493398.5:n.782G>C
NM_018226.4:c.1636G>C	NP_060696.4:p.Asp546His
XM_005247036.3:c.1603G>C	XP_005247093.1:p.Asp535His
NM_018226.5:c.1636G>C	NP_060696.4:p.Asp546His
XM_005247036.4:c.1603G>C	XP_005247093.1:p.Asp535His
NM_018226.6:c.1636G>C MANE Select	NP_060696.4:p.Asp546His