Canonical Allele Identifier: CA351285966

Gene: RNPEPL1

Linked Data

• dbSNP Id: rs1402020245
• gnomAD v2: 2-241515987-C-G
• gnomAD v3: 2-240576570-C-G
• gnomAD v4: 2-240576570-C-G
• MyVariant Identifiers: chr2:g.241515987C>G (hg19) ; chr2:g.240576570C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240576570C>G , CM000664.2:g.240576570C>G	GRCh38
NC_000002.11:g.241515987C>G , CM000664.1:g.241515987C>G	GRCh37
NC_000002.10:g.241164660C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270357.10:c.1546C>G MANE Select	ENSP00000270357.4:p.Pro516Ala
ENST00000270357.8:c.853C>G	ENSP00000270357.3:p.Pro285Ala
ENST00000437406.1:c.112C>G	ENSP00000403319.1:p.Pro38Ala
ENST00000451363.5:c.187C>G	ENSP00000414661.1:p.Pro63Ala
ENST00000464550.5:n.382C>G
ENST00000471657.1:n.349C>G
ENST00000481757.5:n.2480C>G
ENST00000486058.5:n.1659C>G
ENST00000493398.5:n.692C>G
NM_018226.4:c.1546C>G	NP_060696.4:p.Pro516Ala
XM_005247036.3:c.1513C>G	XP_005247093.1:p.Pro505Ala
NM_018226.5:c.1546C>G	NP_060696.4:p.Pro516Ala
XM_005247036.4:c.1513C>G	XP_005247093.1:p.Pro505Ala
NM_018226.6:c.1546C>G MANE Select	NP_060696.4:p.Pro516Ala