Canonical Allele Identifier: CA580030524
Gene: RP1L1 HGNC NCBI

Linked Data

dbSNP Id: rs775534729
gnomAD v2: 8-10479960-G-C
gnomAD v3: 8-10622450-G-C
gnomAD v4: 8-10622450-G-C
MyVariant Identifiers: chr8:g.10479960G>C (hg19) chr8:g.10622450G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.10622450G>C , CM000670.2:g.10622450G>C GRCh38
NC_000008.10:g.10479960G>C , CM000670.1:g.10479960G>C GRCh37
NC_000008.9:g.10517370G>C NCBI36
NG_028035.1:g.37658C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000382483.4:c.609+143C>G MANE Select ENSP00000371923.3:n.609+143C>G
ENST00000329335.3:n.859+143C>G
ENST00000382483.3:c.609+143C>G ENSP00000371923.3:n.609+143C>G
NM_178857.5:c.609+143C>G NP_849188.4:n.609+143C>G
NM_178857.6:c.609+143C>G MANE Select NP_849188.4:n.609+143C>G
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