Canonical Allele Identifier: CA351286158

Gene: RNPEPL1

Linked Data

• gnomAD v4: 2-240576618-C-A
• MyVariant Identifiers: chr2:g.241516035C>A (hg19) ; chr2:g.240576618C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240576618C>A , CM000664.2:g.240576618C>A	GRCh38
NC_000002.11:g.241516035C>A , CM000664.1:g.241516035C>A	GRCh37
NC_000002.10:g.241164708C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270357.10:c.1594C>A MANE Select	ENSP00000270357.4:p.Pro532Thr
ENST00000270357.8:c.901C>A	ENSP00000270357.3:p.Pro301Thr
ENST00000437406.1:c.160C>A	ENSP00000403319.1:p.Pro54Thr
ENST00000451363.5:c.235C>A	ENSP00000414661.1:p.Pro79Thr
ENST00000464550.5:n.430C>A
ENST00000471657.1:n.397C>A
ENST00000481757.5:n.2528C>A
ENST00000486058.5:n.1707C>A
ENST00000493398.5:n.740C>A
NM_018226.4:c.1594C>A	NP_060696.4:p.Pro532Thr
XM_005247036.3:c.1561C>A	XP_005247093.1:p.Pro521Thr
NM_018226.5:c.1594C>A	NP_060696.4:p.Pro532Thr
XM_005247036.4:c.1561C>A	XP_005247093.1:p.Pro521Thr
NM_018226.6:c.1594C>A MANE Select	NP_060696.4:p.Pro532Thr