Canonical Allele Identifier: CA351286259

Gene: RNPEPL1

Linked Data

• gnomAD v4: 2-240576636-C-T
• MyVariant Identifiers: chr2:g.241516053C>T (hg19) ; chr2:g.240576636C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240576636C>T , CM000664.2:g.240576636C>T	GRCh38
NC_000002.11:g.241516053C>T , CM000664.1:g.241516053C>T	GRCh37
NC_000002.10:g.241164726C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270357.10:c.1612C>T MANE Select	ENSP00000270357.4:p.Gln538Ter
ENST00000270357.8:c.919C>T	ENSP00000270357.3:p.Gln307Ter
ENST00000437406.1:c.178C>T	ENSP00000403319.1:p.Gln60Ter
ENST00000451363.5:c.253C>T	ENSP00000414661.1:p.Gln85Ter
ENST00000464550.5:n.448C>T
ENST00000471657.1:n.415C>T
ENST00000481757.5:n.2546C>T
ENST00000486058.5:n.1725C>T
ENST00000493398.5:n.758C>T
NM_018226.4:c.1612C>T	NP_060696.4:p.Gln538Ter
XM_005247036.3:c.1579C>T	XP_005247093.1:p.Gln527Ter
NM_018226.5:c.1612C>T	NP_060696.4:p.Gln538Ter
XM_005247036.4:c.1579C>T	XP_005247093.1:p.Gln527Ter
NM_018226.6:c.1612C>T MANE Select	NP_060696.4:p.Gln538Ter