Canonical Allele Identifier: CA370280280
Gene: RP1L1 HGNC NCBI

Linked Data

dbSNP Id: rs1797752289
gnomAD v3: 8-10608316-C-T
gnomAD v4: 8-10608316-C-T
MyVariant Identifiers: chr8:g.10465826C>T (hg19) chr8:g.10608316C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.10608316C>T , CM000670.2:g.10608316C>T GRCh38
NC_000008.10:g.10465826C>T , CM000670.1:g.10465826C>T GRCh37
NC_000008.9:g.10503236C>T NCBI36
NG_028035.1:g.51792G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000382483.4:c.5782G>A MANE Select ENSP00000371923.3:p.Glu1928Lys
ENST00000382483.3:c.5782G>A ENSP00000371923.3:p.Glu1928Lys
NM_178857.5:c.5782G>A NP_849188.4:p.Glu1928Lys
NM_178857.6:c.5782G>A MANE Select NP_849188.4:p.Glu1928Lys
Search 100 bp 5'
Search 100 bp 3'