Canonical Allele Identifier: CA2663967856

Gene: RNPEPL1

Linked Data

• gnomAD v4: 2-240576186-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240576186T>C , CM000664.2:g.240576186T>C	GRCh38
NC_000002.11:g.241515603T>C , CM000664.1:g.241515603T>C	GRCh37
NC_000002.10:g.241164276T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000270357.10:c.1511-349T>C MANE Select	ENSP00000270357.4:n.1511-349T>C
ENST00000270357.8:c.818-349T>C	ENSP00000270357.3:n.818-349T>C
ENST00000437406.1:c.110-382T>C	ENSP00000403319.1:n.110-382T>C
ENST00000451363.5:c.152-349T>C	ENSP00000414661.1:n.152-349T>C
ENST00000464550.5:n.347-349T>C
ENST00000471657.1:n.314-349T>C
ENST00000481757.5:n.2096T>C
ENST00000486058.5:n.1624-349T>C
ENST00000493398.5:n.657-349T>C
NM_018226.4:c.1511-349T>C	NP_060696.4:n.1511-349T>C
XM_005247036.3:c.1511-382T>C	XP_005247093.1:n.1511-382T>C
NM_018226.5:c.1511-349T>C	NP_060696.4:n.1511-349T>C
XM_005247036.4:c.1511-382T>C	XP_005247093.1:n.1511-382T>C
NM_018226.6:c.1511-349T>C MANE Select	NP_060696.4:n.1511-349T>C