Canonical Allele Identifier: CA68115944
Gene: RNPEPL1 HGNC NCBI

Linked Data

dbSNP Id: rs986074442

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240576115C>T , CM000664.2:g.240576115C>T GRCh38
NC_000002.11:g.241515532C>T , CM000664.1:g.241515532C>T GRCh37
NC_000002.10:g.241164205C>T NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000270357.10:c.1511-420C>T MANE Select ENSP00000270357.4:n.1511-420C>T
ENST00000270357.8:c.818-420C>T ENSP00000270357.3:n.818-420C>T
ENST00000437406.1:c.110-453C>T ENSP00000403319.1:n.110-453C>T
ENST00000451363.5:c.152-420C>T ENSP00000414661.1:n.152-420C>T
ENST00000464550.5:n.347-420C>T
ENST00000471657.1:n.314-420C>T
ENST00000481757.5:n.2025C>T
ENST00000486058.5:n.1624-420C>T
ENST00000493398.5:n.657-420C>T
NM_018226.4:c.1511-420C>T NP_060696.4:n.1511-420C>T
XM_005247036.3:c.1511-453C>T XP_005247093.1:n.1511-453C>T
NM_018226.5:c.1511-420C>T NP_060696.4:n.1511-420C>T
XM_005247036.4:c.1511-453C>T XP_005247093.1:n.1511-453C>T
NM_018226.6:c.1511-420C>T MANE Select NP_060696.4:n.1511-420C>T