Canonical Allele Identifier: CA351286106

Gene: RNPEPL1

Linked Data

• MyVariant Identifiers: chr2:g.241516024G>A (hg19) ; chr2:g.240576607G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240576607G>A , CM000664.2:g.240576607G>A	GRCh38
NC_000002.11:g.241516024G>A , CM000664.1:g.241516024G>A	GRCh37
NC_000002.10:g.241164697G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270357.10:c.1583G>A MANE Select	ENSP00000270357.4:p.Ser528Asn
ENST00000270357.8:c.890G>A	ENSP00000270357.3:p.Ser297Asn
ENST00000437406.1:c.149G>A	ENSP00000403319.1:p.Ser50Asn
ENST00000451363.5:c.224G>A	ENSP00000414661.1:p.Ser75Asn
ENST00000464550.5:n.419G>A
ENST00000471657.1:n.386G>A
ENST00000481757.5:n.2517G>A
ENST00000486058.5:n.1696G>A
ENST00000493398.5:n.729G>A
NM_018226.4:c.1583G>A	NP_060696.4:p.Ser528Asn
XM_005247036.3:c.1550G>A	XP_005247093.1:p.Ser517Asn
NM_018226.5:c.1583G>A	NP_060696.4:p.Ser528Asn
XM_005247036.4:c.1550G>A	XP_005247093.1:p.Ser517Asn
NM_018226.6:c.1583G>A MANE Select	NP_060696.4:p.Ser528Asn