Canonical Allele Identifier: CA432232430

Gene: RNPEPL1

Linked Data

• MyVariant Identifiers: chr2:g.241516022C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240576605C>T , CM000664.2:g.240576605C>T	GRCh38
NC_000002.11:g.241516022C>T , CM000664.1:g.241516022C>T	GRCh37
NC_000002.10:g.241164695C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270357.10:c.1581C>T MANE Select	ENSP00000270357.4:p.Ser527=
ENST00000270357.8:c.888C>T	ENSP00000270357.3:p.Ser296=
ENST00000437406.1:c.147C>T	ENSP00000403319.1:p.Ser49=
ENST00000451363.5:c.222C>T	ENSP00000414661.1:p.Ser74=
ENST00000464550.5:n.417C>T
ENST00000471657.1:n.384C>T
ENST00000481757.5:n.2515C>T
ENST00000486058.5:n.1694C>T
ENST00000493398.5:n.727C>T
NM_018226.4:c.1581C>T	NP_060696.4:p.Ser527=
XM_005247036.3:c.1548C>T	XP_005247093.1:p.Ser516=
NM_018226.5:c.1581C>T	NP_060696.4:p.Ser527=
XM_005247036.4:c.1548C>T	XP_005247093.1:p.Ser516=
NM_018226.6:c.1581C>T MANE Select	NP_060696.4:p.Ser527=