Canonical Allele Identifier: CA351286207

Gene: RNPEPL1

Linked Data

• MyVariant Identifiers: chr2:g.241516044G>T (hg19) ; chr2:g.240576627G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240576627G>T , CM000664.2:g.240576627G>T	GRCh38
NC_000002.11:g.241516044G>T , CM000664.1:g.241516044G>T	GRCh37
NC_000002.10:g.241164717G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270357.10:c.1603G>T MANE Select	ENSP00000270357.4:p.Ala535Ser
ENST00000270357.8:c.910G>T	ENSP00000270357.3:p.Ala304Ser
ENST00000437406.1:c.169G>T	ENSP00000403319.1:p.Ala57Ser
ENST00000451363.5:c.244G>T	ENSP00000414661.1:p.Ala82Ser
ENST00000464550.5:n.439G>T
ENST00000471657.1:n.406G>T
ENST00000481757.5:n.2537G>T
ENST00000486058.5:n.1716G>T
ENST00000493398.5:n.749G>T
NM_018226.4:c.1603G>T	NP_060696.4:p.Ala535Ser
XM_005247036.3:c.1570G>T	XP_005247093.1:p.Ala524Ser
NM_018226.5:c.1603G>T	NP_060696.4:p.Ala535Ser
XM_005247036.4:c.1570G>T	XP_005247093.1:p.Ala524Ser
NM_018226.6:c.1603G>T MANE Select	NP_060696.4:p.Ala535Ser