Canonical Allele Identifier: CA370299736
Gene: RP1L1 HGNC NCBI

Linked Data

dbSNP Id: rs1426336729
gnomAD v2: 8-10480128-T-C
gnomAD v3: 8-10622618-T-C
gnomAD v4: 8-10622618-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.10622618T>C , CM000670.2:g.10622618T>C GRCh38
NC_000008.10:g.10480128T>C , CM000670.1:g.10480128T>C GRCh37
NC_000008.9:g.10517538T>C NCBI36
NG_028035.1:g.37490A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000382483.4:c.584A>G MANE Select ENSP00000371923.3:p.Gln195Arg
ENST00000329335.3:n.834A>G
ENST00000382483.3:c.584A>G ENSP00000371923.3:p.Gln195Arg
NM_178857.5:c.584A>G NP_849188.4:p.Gln195Arg
NM_178857.6:c.584A>G MANE Select NP_849188.4:p.Gln195Arg