Canonical Allele Identifier: CA370299688
Gene: RP1L1 HGNC NCBI

Linked Data

dbSNP Id: rs374460999
gnomAD v2: 8-10480112-G-T
gnomAD v3: 8-10622602-G-T
gnomAD v4: 8-10622602-G-T
MyVariant Identifiers: chr8:g.10480112G>T (hg19) chr8:g.10622602G>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.10622602G>T , CM000670.2:g.10622602G>T GRCh38
NC_000008.10:g.10480112G>T , CM000670.1:g.10480112G>T GRCh37
NC_000008.9:g.10517522G>T NCBI36
NG_028035.1:g.37506C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000382483.4:c.600C>A MANE Select ENSP00000371923.3:p.Ser200Arg
ENST00000329335.3:n.850C>A
ENST00000382483.3:c.600C>A ENSP00000371923.3:p.Ser200Arg
NM_178857.5:c.600C>A NP_849188.4:p.Ser200Arg
NM_178857.6:c.600C>A MANE Select NP_849188.4:p.Ser200Arg
Search 100 bp 5'
Search 100 bp 3'