Canonical Allele Identifier: CA10629898
Gene: RP1L1 HGNC NCBI

Linked Data

ClinVar Variation Id: 361419
ClinVar RCV Id: RCV000354066 RCV002523621
dbSNP Id: rs886062586
gnomAD v2: 8-10480437-G-A
gnomAD v3: 8-10622927-G-A
gnomAD v4: 8-10622927-G-A
MyVariant Identifiers: chr8:g.10480437G>A (hg19) chr8:g.10622927G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.10622927G>A , CM000670.2:g.10622927G>A GRCh38
NC_000008.10:g.10480437G>A , CM000670.1:g.10480437G>A GRCh37
NC_000008.9:g.10517847G>A NCBI36
NG_028035.1:g.37181C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000382483.4:c.275C>T MANE Select ENSP00000371923.3:p.Ala92Val
ENST00000329335.3:n.525C>T
ENST00000382483.3:c.275C>T ENSP00000371923.3:p.Ala92Val
NM_178857.5:c.275C>T NP_849188.4:p.Ala92Val
NM_178857.6:c.275C>T MANE Select NP_849188.4:p.Ala92Val
Search 100 bp 5'
Search 100 bp 3'