Canonical Allele Identifier: CA351285892

Gene: RNPEPL1

Linked Data

• MyVariant Identifiers: chr2:g.241515971G>A (hg19) ; chr2:g.240576554G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240576554G>A , CM000664.2:g.240576554G>A	GRCh38
NC_000002.11:g.241515971G>A , CM000664.1:g.241515971G>A	GRCh37
NC_000002.10:g.241164644G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270357.10:c.1530G>A MANE Select	ENSP00000270357.4:p.Trp510Ter
ENST00000270357.8:c.837G>A	ENSP00000270357.3:p.Trp279Ter
ENST00000437406.1:c.110-14G>A	ENSP00000403319.1:n.110-14G>A
ENST00000451363.5:c.171G>A	ENSP00000414661.1:p.Trp57Ter
ENST00000464550.5:n.366G>A
ENST00000471657.1:n.333G>A
ENST00000481757.5:n.2464G>A
ENST00000486058.5:n.1643G>A
ENST00000493398.5:n.676G>A
NM_018226.4:c.1530G>A	NP_060696.4:p.Trp510Ter
XM_005247036.3:c.1511-14G>A	XP_005247093.1:n.1511-14G>A
NM_018226.5:c.1530G>A	NP_060696.4:p.Trp510Ter
XM_005247036.4:c.1511-14G>A	XP_005247093.1:n.1511-14G>A
NM_018226.6:c.1530G>A MANE Select	NP_060696.4:p.Trp510Ter