Canonical Allele Identifier: CA351286393

Gene: RNPEPL1

Linked Data

• MyVariant Identifiers: chr2:g.241516081A>C (hg19) ; chr2:g.240576664A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240576664A>C , CM000664.2:g.240576664A>C	GRCh38
NC_000002.11:g.241516081A>C , CM000664.1:g.241516081A>C	GRCh37
NC_000002.10:g.241164754A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270357.10:c.1640A>C MANE Select	ENSP00000270357.4:p.Gln547Pro
ENST00000270357.8:c.947A>C	ENSP00000270357.3:p.Gln316Pro
ENST00000437406.1:c.206A>C	ENSP00000403319.1:p.Gln69Pro
ENST00000451363.5:c.281A>C	ENSP00000414661.1:p.Gln94Pro
ENST00000464550.5:n.476A>C
ENST00000471657.1:n.443A>C
ENST00000481757.5:n.2574A>C
ENST00000486058.5:n.1753A>C
ENST00000493398.5:n.786A>C
NM_018226.4:c.1640A>C	NP_060696.4:p.Gln547Pro
XM_005247036.3:c.1607A>C	XP_005247093.1:p.Gln536Pro
NM_018226.5:c.1640A>C	NP_060696.4:p.Gln547Pro
XM_005247036.4:c.1607A>C	XP_005247093.1:p.Gln536Pro
NM_018226.6:c.1640A>C MANE Select	NP_060696.4:p.Gln547Pro