Canonical Allele Identifier: CA351285967

Gene: RNPEPL1

Linked Data

• MyVariant Identifiers: chr2:g.241515987C>T (hg19) ; chr2:g.240576570C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240576570C>T , CM000664.2:g.240576570C>T	GRCh38
NC_000002.11:g.241515987C>T , CM000664.1:g.241515987C>T	GRCh37
NC_000002.10:g.241164660C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270357.10:c.1546C>T MANE Select	ENSP00000270357.4:p.Pro516Ser
ENST00000270357.8:c.853C>T	ENSP00000270357.3:p.Pro285Ser
ENST00000437406.1:c.112C>T	ENSP00000403319.1:p.Pro38Ser
ENST00000451363.5:c.187C>T	ENSP00000414661.1:p.Pro63Ser
ENST00000464550.5:n.382C>T
ENST00000471657.1:n.349C>T
ENST00000481757.5:n.2480C>T
ENST00000486058.5:n.1659C>T
ENST00000493398.5:n.692C>T
NM_018226.4:c.1546C>T	NP_060696.4:p.Pro516Ser
XM_005247036.3:c.1513C>T	XP_005247093.1:p.Pro505Ser
NM_018226.5:c.1546C>T	NP_060696.4:p.Pro516Ser
XM_005247036.4:c.1513C>T	XP_005247093.1:p.Pro505Ser
NM_018226.6:c.1546C>T MANE Select	NP_060696.4:p.Pro516Ser