Canonical Allele Identifier: CA351286212

Gene: RNPEPL1

Linked Data

• dbSNP Id: rs1273074954
• gnomAD v2: 2-241516045-C-T
• gnomAD v4: 2-240576628-C-T
• MyVariant Identifiers: chr2:g.241516045C>T (hg19) ; chr2:g.240576628C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240576628C>T , CM000664.2:g.240576628C>T	GRCh38
NC_000002.11:g.241516045C>T , CM000664.1:g.241516045C>T	GRCh37
NC_000002.10:g.241164718C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270357.10:c.1604C>T MANE Select	ENSP00000270357.4:p.Ala535Val
ENST00000270357.8:c.911C>T	ENSP00000270357.3:p.Ala304Val
ENST00000437406.1:c.170C>T	ENSP00000403319.1:p.Ala57Val
ENST00000451363.5:c.245C>T	ENSP00000414661.1:p.Ala82Val
ENST00000464550.5:n.440C>T
ENST00000471657.1:n.407C>T
ENST00000481757.5:n.2538C>T
ENST00000486058.5:n.1717C>T
ENST00000493398.5:n.750C>T
NM_018226.4:c.1604C>T	NP_060696.4:p.Ala535Val
XM_005247036.3:c.1571C>T	XP_005247093.1:p.Ala524Val
NM_018226.5:c.1604C>T	NP_060696.4:p.Ala535Val
XM_005247036.4:c.1571C>T	XP_005247093.1:p.Ala524Val
NM_018226.6:c.1604C>T MANE Select	NP_060696.4:p.Ala535Val