Canonical Allele Identifier: CA370299975
Gene: RP1L1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1490717
ClinVar RCV Id: RCV002003943
dbSNP Id: rs1470101683
gnomAD v2: 8-10480210-C-T
gnomAD v3: 8-10622700-C-T
gnomAD v4: 8-10622700-C-T
MyVariant Identifiers: chr8:g.10480210C>T (hg19) chr8:g.10622700C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.10622700C>T , CM000670.2:g.10622700C>T GRCh38
NC_000008.10:g.10480210C>T , CM000670.1:g.10480210C>T GRCh37
NC_000008.9:g.10517620C>T NCBI36
NG_028035.1:g.37408G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000382483.4:c.502G>A MANE Select ENSP00000371923.3:p.Val168Met
ENST00000329335.3:n.752G>A
ENST00000382483.3:c.502G>A ENSP00000371923.3:p.Val168Met
NM_178857.5:c.502G>A NP_849188.4:p.Val168Met
NM_178857.6:c.502G>A MANE Select NP_849188.4:p.Val168Met
Search 100 bp 5'
Search 100 bp 3'