Canonical Allele Identifier: CA351285979

Gene: RNPEPL1

Linked Data

• MyVariant Identifiers: chr2:g.241515990C>G (hg19) ; chr2:g.240576573C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240576573C>G , CM000664.2:g.240576573C>G	GRCh38
NC_000002.11:g.241515990C>G , CM000664.1:g.241515990C>G	GRCh37
NC_000002.10:g.241164663C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270357.10:c.1549C>G MANE Select	ENSP00000270357.4:p.Pro517Ala
ENST00000270357.8:c.856C>G	ENSP00000270357.3:p.Pro286Ala
ENST00000437406.1:c.115C>G	ENSP00000403319.1:p.Pro39Ala
ENST00000451363.5:c.190C>G	ENSP00000414661.1:p.Pro64Ala
ENST00000464550.5:n.385C>G
ENST00000471657.1:n.352C>G
ENST00000481757.5:n.2483C>G
ENST00000486058.5:n.1662C>G
ENST00000493398.5:n.695C>G
NM_018226.4:c.1549C>G	NP_060696.4:p.Pro517Ala
XM_005247036.3:c.1516C>G	XP_005247093.1:p.Pro506Ala
NM_018226.5:c.1549C>G	NP_060696.4:p.Pro517Ala
XM_005247036.4:c.1516C>G	XP_005247093.1:p.Pro506Ala
NM_018226.6:c.1549C>G MANE Select	NP_060696.4:p.Pro517Ala