Canonical Allele Identifier: CA1110647947
Gene: RP1L1 HGNC NCBI

Linked Data

dbSNP Id: rs924024703
gnomAD v3: 8-10622478-G-C
gnomAD v4: 8-10622478-G-C
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.10622478G>C , CM000670.2:g.10622478G>C GRCh38
NC_000008.10:g.10479988G>C , CM000670.1:g.10479988G>C GRCh37
NC_000008.9:g.10517398G>C NCBI36
NG_028035.1:g.37630C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000382483.4:c.609+115C>G MANE Select ENSP00000371923.3:n.609+115C>G
ENST00000329335.3:n.859+115C>G
ENST00000382483.3:c.609+115C>G ENSP00000371923.3:n.609+115C>G
NM_178857.5:c.609+115C>G NP_849188.4:n.609+115C>G
NM_178857.6:c.609+115C>G MANE Select NP_849188.4:n.609+115C>G
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