Canonical Allele Identifier: CA68116095

Gene: RNPEPL1

Linked Data

• dbSNP Id: rs926374987
• MyVariant Identifiers: chr2:g.241515990C>T (hg19) ; chr2:g.240576573C>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270357.10:c.1549C>T MANE Select	ENSP00000270357.4:p.Pro517Ser
ENST00000270357.8:c.856C>T	ENSP00000270357.3:p.Pro286Ser
ENST00000437406.1:c.115C>T	ENSP00000403319.1:p.Pro39Ser
ENST00000451363.5:c.190C>T	ENSP00000414661.1:p.Pro64Ser
ENST00000464550.5:n.385C>T
ENST00000471657.1:n.352C>T
ENST00000481757.5:n.2483C>T
ENST00000486058.5:n.1662C>T
ENST00000493398.5:n.695C>T
NM_018226.4:c.1549C>T	NP_060696.4:p.Pro517Ser
XM_005247036.3:c.1516C>T	XP_005247093.1:p.Pro506Ser
NM_018226.5:c.1549C>T	NP_060696.4:p.Pro517Ser
XM_005247036.4:c.1516C>T	XP_005247093.1:p.Pro506Ser
NM_018226.6:c.1549C>T MANE Select	NP_060696.4:p.Pro517Ser