Canonical Allele Identifier: CA4625230
Gene: RP1L1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3028047
ClinVar RCV Id: RCV003889417
dbSNP Id: rs757295586
ExAC: 8:10470303 A / C
gnomAD v2: 8-10470303-A-C
gnomAD v4: 8-10612793-A-C
MyVariant Identifiers: chr8:g.10470303A>C (hg19) chr8:g.10612793A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.10612793A>C , CM000670.2:g.10612793A>C GRCh38
NC_000008.10:g.10470303A>C , CM000670.1:g.10470303A>C GRCh37
NC_000008.9:g.10507713A>C NCBI36
NG_028035.1:g.47315T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000382483.4:c.1305T>G MANE Select ENSP00000371923.3:p.Ser435Arg
ENST00000382483.3:c.1305T>G ENSP00000371923.3:p.Ser435Arg
NM_178857.5:c.1305T>G NP_849188.4:p.Ser435Arg
NM_178857.6:c.1305T>G MANE Select NP_849188.4:p.Ser435Arg
Search 100 bp 5'
Search 100 bp 3'