Canonical Allele Identifier: CA432232377

Gene: RNPEPL1

Linked Data

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

Genomic Alleles

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

Transcript Alleles

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