Canonical Allele Identifier: CA370295774
Gene: RP1L1 HGNC NCBI

Linked Data

dbSNP Id: rs781267892
gnomAD v3: 8-10612795-T-G
gnomAD v4: 8-10612795-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.10612795T>G , CM000670.2:g.10612795T>G GRCh38
NC_000008.10:g.10470305T>G , CM000670.1:g.10470305T>G GRCh37
NC_000008.9:g.10507715T>G NCBI36
NG_028035.1:g.47313A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000382483.4:c.1303A>C MANE Select ENSP00000371923.3:p.Ser435Arg
ENST00000382483.3:c.1303A>C ENSP00000371923.3:p.Ser435Arg
NM_178857.5:c.1303A>C NP_849188.4:p.Ser435Arg
NM_178857.6:c.1303A>C MANE Select NP_849188.4:p.Ser435Arg