Canonical Allele Identifier: CA270131
Gene: RP1L1 HGNC NCBI

Linked Data

ClinVar Variation Id: 143165
dbSNP Id: rs377269054
gnomAD v2: 8-10480477-G-A
gnomAD v3: 8-10622967-G-A
gnomAD v4: 8-10622967-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.10622967G>A , CM000670.2:g.10622967G>A GRCh38
NC_000008.10:g.10480477G>A , CM000670.1:g.10480477G>A GRCh37
NC_000008.9:g.10517887G>A NCBI36
NG_028035.1:g.37141C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000382483.4:c.235C>T MANE Select ENSP00000371923.3:p.Arg79Cys
ENST00000329335.3:n.485C>T
ENST00000382483.3:c.235C>T ENSP00000371923.3:p.Arg79Cys
NM_178857.5:c.235C>T NP_849188.4:p.Arg79Cys
NM_178857.6:c.235C>T MANE Select NP_849188.4:p.Arg79Cys