Canonical Allele Identifier: CA351286355

Gene: RNPEPL1

Linked Data

• MyVariant Identifiers: chr2:g.241516072C>T (hg19) ; chr2:g.240576655C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240576655C>T , CM000664.2:g.240576655C>T	GRCh38
NC_000002.11:g.241516072C>T , CM000664.1:g.241516072C>T	GRCh37
NC_000002.10:g.241164745C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270357.10:c.1631C>T MANE Select	ENSP00000270357.4:p.Pro544Leu
ENST00000270357.8:c.938C>T	ENSP00000270357.3:p.Pro313Leu
ENST00000437406.1:c.197C>T	ENSP00000403319.1:p.Pro66Leu
ENST00000451363.5:c.272C>T	ENSP00000414661.1:p.Pro91Leu
ENST00000464550.5:n.467C>T
ENST00000471657.1:n.434C>T
ENST00000481757.5:n.2565C>T
ENST00000486058.5:n.1744C>T
ENST00000493398.5:n.777C>T
NM_018226.4:c.1631C>T	NP_060696.4:p.Pro544Leu
XM_005247036.3:c.1598C>T	XP_005247093.1:p.Pro533Leu
NM_018226.5:c.1631C>T	NP_060696.4:p.Pro544Leu
XM_005247036.4:c.1598C>T	XP_005247093.1:p.Pro533Leu
NM_018226.6:c.1631C>T MANE Select	NP_060696.4:p.Pro544Leu