Canonical Allele Identifier: CA4625687
Gene: RP1L1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2421416
ClinVar RCV Id: RCV003113076
dbSNP Id: rs761241198
ExAC: 8:10480253 C / A
gnomAD v2: 8-10480253-C-A
gnomAD v3: 8-10622743-C-A
gnomAD v4: 8-10622743-C-A
MyVariant Identifiers: chr8:g.10480253C>A (hg19) chr8:g.10622743C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.10622743C>A , CM000670.2:g.10622743C>A GRCh38
NC_000008.10:g.10480253C>A , CM000670.1:g.10480253C>A GRCh37
NC_000008.9:g.10517663C>A NCBI36
NG_028035.1:g.37365G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000382483.4:c.459G>T MANE Select ENSP00000371923.3:p.Arg153Ser
ENST00000329335.3:n.709G>T
ENST00000382483.3:c.459G>T ENSP00000371923.3:p.Arg153Ser
NM_178857.5:c.459G>T NP_849188.4:p.Arg153Ser
NM_178857.6:c.459G>T MANE Select NP_849188.4:p.Arg153Ser
Search 100 bp 5'
Search 100 bp 3'