Canonical Allele Identifier: CA432232376

Gene: RNPEPL1

Linked Data

• MyVariant Identifiers: chr2:g.241515998T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240576581T>G , CM000664.2:g.240576581T>G	GRCh38
NC_000002.11:g.241515998T>G , CM000664.1:g.241515998T>G	GRCh37
NC_000002.10:g.241164671T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270357.10:c.1557T>G MANE Select	ENSP00000270357.4:p.Ala519=
ENST00000270357.8:c.864T>G	ENSP00000270357.3:p.Ala288=
ENST00000437406.1:c.123T>G	ENSP00000403319.1:p.Ala41=
ENST00000451363.5:c.198T>G	ENSP00000414661.1:p.Ala66=
ENST00000464550.5:n.393T>G
ENST00000471657.1:n.360T>G
ENST00000481757.5:n.2491T>G
ENST00000486058.5:n.1670T>G
ENST00000493398.5:n.703T>G
NM_018226.4:c.1557T>G	NP_060696.4:p.Ala519=
XM_005247036.3:c.1524T>G	XP_005247093.1:p.Ala508=
NM_018226.5:c.1557T>G	NP_060696.4:p.Ala519=
XM_005247036.4:c.1524T>G	XP_005247093.1:p.Ala508=
NM_018226.6:c.1557T>G MANE Select	NP_060696.4:p.Ala519=