Canonical Allele Identifier: CA4625627
Gene: RP1L1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1494657
ClinVar RCV Id: RCV001989510
dbSNP Id: rs760475719
ExAC: 8:10480110 C / T
gnomAD v2: 8-10480110-C-T
gnomAD v4: 8-10622600-C-T
MyVariant Identifiers: chr8:g.10480110C>T (hg19) chr8:g.10622600C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.10622600C>T , CM000670.2:g.10622600C>T GRCh38
NC_000008.10:g.10480110C>T , CM000670.1:g.10480110C>T GRCh37
NC_000008.9:g.10517520C>T NCBI36
NG_028035.1:g.37508G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000382483.4:c.602G>A MANE Select ENSP00000371923.3:p.Gly201Glu
ENST00000329335.3:n.852G>A
ENST00000382483.3:c.602G>A ENSP00000371923.3:p.Gly201Glu
NM_178857.5:c.602G>A NP_849188.4:p.Gly201Glu
NM_178857.6:c.602G>A MANE Select NP_849188.4:p.Gly201Glu
Search 100 bp 5'
Search 100 bp 3'