Canonical Allele Identifier: CA4625630
Gene: RP1L1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2141656
ClinVar RCV Id: RCV003060420
dbSNP Id: rs754622612
ExAC: 8:10480113 C / G
gnomAD v2: 8-10480113-C-G
gnomAD v3: 8-10622603-C-G
gnomAD v4: 8-10622603-C-G
MyVariant Identifiers: chr8:g.10480113C>G (hg19) chr8:g.10622603C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.10622603C>G , CM000670.2:g.10622603C>G GRCh38
NC_000008.10:g.10480113C>G , CM000670.1:g.10480113C>G GRCh37
NC_000008.9:g.10517523C>G NCBI36
NG_028035.1:g.37505G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000382483.4:c.599G>C MANE Select ENSP00000371923.3:p.Ser200Thr
ENST00000329335.3:n.849G>C
ENST00000382483.3:c.599G>C ENSP00000371923.3:p.Ser200Thr
NM_178857.5:c.599G>C NP_849188.4:p.Ser200Thr
NM_178857.6:c.599G>C MANE Select NP_849188.4:p.Ser200Thr
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