Canonical Allele Identifier: CA432232148

Gene: RNPEPL1

Linked Data

• MyVariant Identifiers: chr2:g.241516079C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240576662C>T , CM000664.2:g.240576662C>T	GRCh38
NC_000002.11:g.241516079C>T , CM000664.1:g.241516079C>T	GRCh37
NC_000002.10:g.241164752C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270357.10:c.1638C>T MANE Select	ENSP00000270357.4:p.Asp546=
ENST00000270357.8:c.945C>T	ENSP00000270357.3:p.Asp315=
ENST00000437406.1:c.204C>T	ENSP00000403319.1:p.Asp68=
ENST00000451363.5:c.279C>T	ENSP00000414661.1:p.Asp93=
ENST00000464550.5:n.474C>T
ENST00000471657.1:n.441C>T
ENST00000481757.5:n.2572C>T
ENST00000486058.5:n.1751C>T
ENST00000493398.5:n.784C>T
NM_018226.4:c.1638C>T	NP_060696.4:p.Asp546=
XM_005247036.3:c.1605C>T	XP_005247093.1:p.Asp535=
NM_018226.5:c.1638C>T	NP_060696.4:p.Asp546=
XM_005247036.4:c.1605C>T	XP_005247093.1:p.Asp535=
NM_018226.6:c.1638C>T MANE Select	NP_060696.4:p.Asp546=