Canonical Allele Identifier: CA432232351

Gene: RNPEPL1

Linked Data

• dbSNP Id: rs777178847
• gnomAD v4: 2-240576572-G-T
• MyVariant Identifiers: chr2:g.241515989G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240576572G>T , CM000664.2:g.240576572G>T	GRCh38
NC_000002.11:g.241515989G>T , CM000664.1:g.241515989G>T	GRCh37
NC_000002.10:g.241164662G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270357.10:c.1548G>T MANE Select	ENSP00000270357.4:p.Pro516=
ENST00000270357.8:c.855G>T	ENSP00000270357.3:p.Pro285=
ENST00000437406.1:c.114G>T	ENSP00000403319.1:p.Pro38=
ENST00000451363.5:c.189G>T	ENSP00000414661.1:p.Pro63=
ENST00000464550.5:n.384G>T
ENST00000471657.1:n.351G>T
ENST00000481757.5:n.2482G>T
ENST00000486058.5:n.1661G>T
ENST00000493398.5:n.694G>T
NM_018226.4:c.1548G>T	NP_060696.4:p.Pro516=
XM_005247036.3:c.1515G>T	XP_005247093.1:p.Pro505=
NM_018226.5:c.1548G>T	NP_060696.4:p.Pro516=
XM_005247036.4:c.1515G>T	XP_005247093.1:p.Pro505=
NM_018226.6:c.1548G>T MANE Select	NP_060696.4:p.Pro516=