Canonical Allele Identifier: CA766921197

Gene: RNPEPL1

Linked Data

• dbSNP Id: rs1229382106
• gnomAD v3: 2-240576074-C-T
• gnomAD v4: 2-240576074-C-T
• MyVariant Identifiers: chr2:g.241515491C>T (hg19) ; chr2:g.240576074C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240576074C>T , CM000664.2:g.240576074C>T	GRCh38
NC_000002.11:g.241515491C>T , CM000664.1:g.241515491C>T	GRCh37
NC_000002.10:g.241164164C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270357.10:c.1511-461C>T MANE Select	ENSP00000270357.4:n.1511-461C>T
ENST00000270357.8:c.818-461C>T	ENSP00000270357.3:n.818-461C>T
ENST00000437406.1:c.109+464C>T	ENSP00000403319.1:n.109+464C>T
ENST00000451363.5:c.152-461C>T	ENSP00000414661.1:n.152-461C>T
ENST00000464550.5:n.347-461C>T
ENST00000471657.1:n.314-461C>T
ENST00000481757.5:n.1984C>T
ENST00000486058.5:n.1624-461C>T
ENST00000493398.5:n.657-461C>T
NM_018226.4:c.1511-461C>T	NP_060696.4:n.1511-461C>T
XM_005247036.3:c.1510+464C>T	XP_005247093.1:n.1510+464C>T
NM_018226.5:c.1511-461C>T	NP_060696.4:n.1511-461C>T
XM_005247036.4:c.1510+464C>T	XP_005247093.1:n.1510+464C>T
NM_018226.6:c.1511-461C>T MANE Select	NP_060696.4:n.1511-461C>T