Canonical Allele Identifier: CA351286370

Gene: RNPEPL1

Linked Data

• dbSNP Id: rs2093038465
• gnomAD v3: 2-240576660-G-A
• gnomAD v4: 2-240576660-G-A
• MyVariant Identifiers: chr2:g.241516077G>A (hg19) ; chr2:g.240576660G>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270357.10:c.1636G>A MANE Select	ENSP00000270357.4:p.Asp546Asn
ENST00000270357.8:c.943G>A	ENSP00000270357.3:p.Asp315Asn
ENST00000437406.1:c.202G>A	ENSP00000403319.1:p.Asp68Asn
ENST00000451363.5:c.277G>A	ENSP00000414661.1:p.Asp93Asn
ENST00000464550.5:n.472G>A
ENST00000471657.1:n.439G>A
ENST00000481757.5:n.2570G>A
ENST00000486058.5:n.1749G>A
ENST00000493398.5:n.782G>A
NM_018226.4:c.1636G>A	NP_060696.4:p.Asp546Asn
XM_005247036.3:c.1603G>A	XP_005247093.1:p.Asp535Asn
NM_018226.5:c.1636G>A	NP_060696.4:p.Asp546Asn
XM_005247036.4:c.1603G>A	XP_005247093.1:p.Asp535Asn
NM_018226.6:c.1636G>A MANE Select	NP_060696.4:p.Asp546Asn