Canonical Allele Identifier: CA11213108
Gene: RNPEPL1 HGNC NCBI

Linked Data

dbSNP Id: rs2953145

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240576179G>C , CM000664.2:g.240576179G>C GRCh38
NC_000002.11:g.241515596G>C , CM000664.1:g.241515596G>C GRCh37
NC_000002.10:g.241164269G>C NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000270357.10:c.1511-356G>C MANE Select ENSP00000270357.4:n.1511-356G>C
ENST00000270357.8:c.818-356G>C ENSP00000270357.3:n.818-356G>C
ENST00000437406.1:n.110-389G>C ENSP00000403319.1:n.110-389G>C
ENST00000451363.5:c.152-356G>C ENSP00000414661.1:n.152-356G>C
ENST00000464550.5:n.347-356G>C
ENST00000471657.1:n.314-356G>C
ENST00000481757.5:n.2089G>C
ENST00000486058.5:n.1624-356G>C
ENST00000493398.5:n.657-356G>C
NM_018226.4:n.1511-356G>C NP_060696.4:n.1511-356G>C
XM_005247036.3:c.1511-389G>C XP_005247093.1:n.1511-389G>C
NM_018226.5:c.1511-356G>C NP_060696.4:n.1511-356G>C
XM_005247036.4:c.1511-389G>C XP_005247093.1:n.1511-389G>C
NM_018226.6:c.1511-356G>C MANE Select NP_060696.4:n.1511-356G>C