Canonical Allele Identifier: CA4625709
Gene: RP1L1 HGNC NCBI

Linked Data

ClinVar Variation Id: 361411
ClinVar RCV Id: RCV000390022 RCV000956559
dbSNP Id: rs79465957
ExAC: 8:10480292 G / T
gnomAD v2: 8-10480292-G-T
gnomAD v3: 8-10622782-G-T
gnomAD v4: 8-10622782-G-T
MyVariant Identifiers: chr8:g.10480292G>T (hg19) chr8:g.10622782G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.10622782G>T , CM000670.2:g.10622782G>T GRCh38
NC_000008.10:g.10480292G>T , CM000670.1:g.10480292G>T GRCh37
NC_000008.9:g.10517702G>T NCBI36
NG_028035.1:g.37326C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000382483.4:c.420C>A MANE Select ENSP00000371923.3:p.Gly140=
ENST00000329335.3:n.670C>A
ENST00000382483.3:c.420C>A ENSP00000371923.3:p.Gly140=
NM_178857.5:c.420C>A NP_849188.4:p.Gly140=
NM_178857.6:c.420C>A MANE Select NP_849188.4:p.Gly140=
Search 100 bp 5'
Search 100 bp 3'