Canonical Allele Identifier: CA4625629
Gene: RP1L1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1531750
ClinVar RCV Id: RCV002084712
dbSNP Id: rs374460999
ExAC: 8:10480112 G / A
gnomAD v2: 8-10480112-G-A
gnomAD v3: 8-10622602-G-A
gnomAD v4: 8-10622602-G-A
MyVariant Identifiers: chr8:g.10480112G>A (hg19) chr8:g.10622602G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.10622602G>A , CM000670.2:g.10622602G>A GRCh38
NC_000008.10:g.10480112G>A , CM000670.1:g.10480112G>A GRCh37
NC_000008.9:g.10517522G>A NCBI36
NG_028035.1:g.37506C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000382483.4:c.600C>T MANE Select ENSP00000371923.3:p.Ser200=
ENST00000329335.3:n.850C>T
ENST00000382483.3:c.600C>T ENSP00000371923.3:p.Ser200=
NM_178857.5:c.600C>T NP_849188.4:p.Ser200=
NM_178857.6:c.600C>T MANE Select NP_849188.4:p.Ser200=
Search 100 bp 5'
Search 100 bp 3'