Canonical Allele Identifier: CA432232144

Gene: RNPEPL1

Linked Data

• MyVariant Identifiers: chr2:g.241516076G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240576659G>T , CM000664.2:g.240576659G>T	GRCh38
NC_000002.11:g.241516076G>T , CM000664.1:g.241516076G>T	GRCh37
NC_000002.10:g.241164749G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270357.10:c.1635G>T MANE Select	ENSP00000270357.4:p.Leu545=
ENST00000270357.8:c.942G>T	ENSP00000270357.3:p.Leu314=
ENST00000437406.1:c.201G>T	ENSP00000403319.1:p.Leu67=
ENST00000451363.5:c.276G>T	ENSP00000414661.1:p.Leu92=
ENST00000464550.5:n.471G>T
ENST00000471657.1:n.438G>T
ENST00000481757.5:n.2569G>T
ENST00000486058.5:n.1748G>T
ENST00000493398.5:n.781G>T
NM_018226.4:c.1635G>T	NP_060696.4:p.Leu545=
XM_005247036.3:c.1602G>T	XP_005247093.1:p.Leu534=
NM_018226.5:c.1635G>T	NP_060696.4:p.Leu545=
XM_005247036.4:c.1602G>T	XP_005247093.1:p.Leu534=
NM_018226.6:c.1635G>T MANE Select	NP_060696.4:p.Leu545=