Canonical Allele Identifier: CA351286094

Gene: RNPEPL1

Linked Data

• dbSNP Id: rs1353750675
• gnomAD v4: 2-240576604-C-A
• MyVariant Identifiers: chr2:g.241516021C>A (hg19) ; chr2:g.240576604C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240576604C>A , CM000664.2:g.240576604C>A	GRCh38
NC_000002.11:g.241516021C>A , CM000664.1:g.241516021C>A	GRCh37
NC_000002.10:g.241164694C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270357.10:c.1580C>A MANE Select	ENSP00000270357.4:p.Ser527Tyr
ENST00000270357.8:c.887C>A	ENSP00000270357.3:p.Ser296Tyr
ENST00000437406.1:c.146C>A	ENSP00000403319.1:p.Ser49Tyr
ENST00000451363.5:c.221C>A	ENSP00000414661.1:p.Ser74Tyr
ENST00000464550.5:n.416C>A
ENST00000471657.1:n.383C>A
ENST00000481757.5:n.2514C>A
ENST00000486058.5:n.1693C>A
ENST00000493398.5:n.726C>A
NM_018226.4:c.1580C>A	NP_060696.4:p.Ser527Tyr
XM_005247036.3:c.1547C>A	XP_005247093.1:p.Ser516Tyr
NM_018226.5:c.1580C>A	NP_060696.4:p.Ser527Tyr
XM_005247036.4:c.1547C>A	XP_005247093.1:p.Ser516Tyr
NM_018226.6:c.1580C>A MANE Select	NP_060696.4:p.Ser527Tyr