Canonical Allele Identifier: CA351286345
Gene: RNPEPL1 HGNC NCBI

Linked Data

dbSNP Id: rs770772897
gnomAD v4: 2-240576654-C-G
MyVariant Identifiers: chr2:g.241516071C>G (hg19) chr2:g.240576654C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240576654C>G , CM000664.2:g.240576654C>G GRCh38
NC_000002.11:g.241516071C>G , CM000664.1:g.241516071C>G GRCh37
NC_000002.10:g.241164744C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000270357.10:c.1630C>G MANE Select ENSP00000270357.4:p.Pro544Ala
ENST00000270357.8:c.937C>G ENSP00000270357.3:p.Pro313Ala
ENST00000437406.1:c.196C>G ENSP00000403319.1:p.Pro66Ala
ENST00000451363.5:c.271C>G ENSP00000414661.1:p.Pro91Ala
ENST00000464550.5:n.466C>G
ENST00000471657.1:n.433C>G
ENST00000481757.5:n.2564C>G
ENST00000486058.5:n.1743C>G
ENST00000493398.5:n.776C>G
NM_018226.4:c.1630C>G NP_060696.4:p.Pro544Ala
XM_005247036.3:c.1597C>G XP_005247093.1:p.Pro533Ala
NM_018226.5:c.1630C>G NP_060696.4:p.Pro544Ala
XM_005247036.4:c.1597C>G XP_005247093.1:p.Pro533Ala
NM_018226.6:c.1630C>G MANE Select NP_060696.4:p.Pro544Ala
Search 100 bp 5'
Search 100 bp 3'