Canonical Allele Identifier: CA459617034
Gene: RP1L1 HGNC NCBI

Linked Data

dbSNP Id: rs1183761722
gnomAD v4: 8-10608209-G-A
MyVariant Identifiers: chr8:g.10465719G>A (hg19) chr8:g.10608209G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.10608209G>A , CM000670.2:g.10608209G>A GRCh38
NC_000008.10:g.10465719G>A , CM000670.1:g.10465719G>A GRCh37
NC_000008.9:g.10503129G>A NCBI36
NG_028035.1:g.51899C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000382483.4:c.5889C>T MANE Select ENSP00000371923.3:p.Ser1963=
ENST00000382483.3:c.5889C>T ENSP00000371923.3:p.Ser1963=
NM_178857.5:c.5889C>T NP_849188.4:p.Ser1963=
NM_178857.6:c.5889C>T MANE Select NP_849188.4:p.Ser1963=
Search 100 bp 5'
Search 100 bp 3'