Canonical Allele Identifier: CA351286032

Gene: RNPEPL1

Linked Data

• MyVariant Identifiers: chr2:g.241516005G>T (hg19) ; chr2:g.240576588G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240576588G>T , CM000664.2:g.240576588G>T	GRCh38
NC_000002.11:g.241516005G>T , CM000664.1:g.241516005G>T	GRCh37
NC_000002.10:g.241164678G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270357.10:c.1564G>T MANE Select	ENSP00000270357.4:p.Asp522Tyr
ENST00000270357.8:c.871G>T	ENSP00000270357.3:p.Asp291Tyr
ENST00000437406.1:c.130G>T	ENSP00000403319.1:p.Asp44Tyr
ENST00000451363.5:c.205G>T	ENSP00000414661.1:p.Asp69Tyr
ENST00000464550.5:n.400G>T
ENST00000471657.1:n.367G>T
ENST00000481757.5:n.2498G>T
ENST00000486058.5:n.1677G>T
ENST00000493398.5:n.710G>T
NM_018226.4:c.1564G>T	NP_060696.4:p.Asp522Tyr
XM_005247036.3:c.1531G>T	XP_005247093.1:p.Asp511Tyr
NM_018226.5:c.1564G>T	NP_060696.4:p.Asp522Tyr
XM_005247036.4:c.1531G>T	XP_005247093.1:p.Asp511Tyr
NM_018226.6:c.1564G>T MANE Select	NP_060696.4:p.Asp522Tyr