Canonical Allele Identifier: CA68115914

Gene: RNPEPL1

Linked Data

• dbSNP Id: rs972129261
• gnomAD v4: 2-240575978-G-A
• MyVariant Identifiers: chr2:g.241515395G>A (hg19) ; chr2:g.240575978G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240575978G>A , CM000664.2:g.240575978G>A	GRCh38
NC_000002.11:g.241515395G>A , CM000664.1:g.241515395G>A	GRCh37
NC_000002.10:g.241164068G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000270357.10:c.1510+368G>A MANE Select	ENSP00000270357.4:n.1510+368G>A
ENST00000270357.8:c.817+368G>A	ENSP00000270357.3:n.817+368G>A
ENST00000437406.1:c.109+368G>A	ENSP00000403319.1:n.109+368G>A
ENST00000451363.5:c.151+368G>A	ENSP00000414661.1:n.151+368G>A
ENST00000464550.5:n.346+368G>A
ENST00000471657.1:n.313+368G>A
ENST00000481757.5:n.1888G>A
ENST00000486058.5:n.1623+368G>A
ENST00000493398.5:n.656+368G>A
NM_018226.4:c.1510+368G>A	NP_060696.4:n.1510+368G>A
XM_005247036.3:c.1510+368G>A	XP_005247093.1:n.1510+368G>A
NM_018226.5:c.1510+368G>A	NP_060696.4:n.1510+368G>A
XM_005247036.4:c.1510+368G>A	XP_005247093.1:n.1510+368G>A
NM_018226.6:c.1510+368G>A MANE Select	NP_060696.4:n.1510+368G>A