Canonical Allele Identifier: CA4625628
Gene: RP1L1 HGNC NCBI

Linked Data

ClinVar Variation Id: 866377
dbSNP Id: rs767784152
gnomAD v2: 8-10480111-C-T
gnomAD v3: 8-10622601-C-T
gnomAD v4: 8-10622601-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.10622601C>T , CM000670.2:g.10622601C>T GRCh38
NC_000008.10:g.10480111C>T , CM000670.1:g.10480111C>T GRCh37
NC_000008.9:g.10517521C>T NCBI36
NG_028035.1:g.37507G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000382483.4:c.601G>A MANE Select ENSP00000371923.3:p.Gly201Arg
ENST00000329335.3:n.851G>A
ENST00000382483.3:c.601G>A ENSP00000371923.3:p.Gly201Arg
NM_178857.5:c.601G>A NP_849188.4:p.Gly201Arg
NM_178857.6:c.601G>A MANE Select NP_849188.4:p.Gly201Arg