Canonical Allele Identifier: CA370280266
Gene: RP1L1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr8:g.10465820C>G (hg19) chr8:g.10608310C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.10608310C>G , CM000670.2:g.10608310C>G GRCh38
NC_000008.10:g.10465820C>G , CM000670.1:g.10465820C>G GRCh37
NC_000008.9:g.10503230C>G NCBI36
NG_028035.1:g.51798G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000382483.4:c.5788G>C MANE Select ENSP00000371923.3:p.Glu1930Gln
ENST00000382483.3:c.5788G>C ENSP00000371923.3:p.Glu1930Gln
NM_178857.5:c.5788G>C NP_849188.4:p.Glu1930Gln
NM_178857.6:c.5788G>C MANE Select NP_849188.4:p.Glu1930Gln
Search 100 bp 5'
Search 100 bp 3'