Canonical Allele Identifier: CA1763389415
Gene: RP1L1 HGNC NCBI

Linked Data

dbSNP Id: rs1349434115
gnomAD v4: 8-10622577-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.10622577G>T , CM000670.2:g.10622577G>T GRCh38
NC_000008.10:g.10480087G>T , CM000670.1:g.10480087G>T GRCh37
NC_000008.9:g.10517497G>T NCBI36
NG_028035.1:g.37531C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000382483.4:c.609+16C>A MANE Select ENSP00000371923.3:n.609+16C>A
ENST00000329335.3:n.859+16C>A
ENST00000382483.3:c.609+16C>A ENSP00000371923.3:n.609+16C>A
NM_178857.5:c.609+16C>A NP_849188.4:n.609+16C>A
NM_178857.6:c.609+16C>A MANE Select NP_849188.4:n.609+16C>A
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