Canonical Allele Identifier: CA4625244
Gene: RP1L1 HGNC NCBI

Linked Data

ClinVar Variation Id: 361382
ClinVar RCV Id: RCV000270861 RCV001355517 RCV002523617
dbSNP Id: rs566321002
ExAC: 8:10470340 C / G
gnomAD v2: 8-10470340-C-G
gnomAD v3: 8-10612830-C-G
gnomAD v4: 8-10612830-C-G
MyVariant Identifiers: chr8:g.10470340C>G (hg19) chr8:g.10612830C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.10612830C>G , CM000670.2:g.10612830C>G GRCh38
NC_000008.10:g.10470340C>G , CM000670.1:g.10470340C>G GRCh37
NC_000008.9:g.10507750C>G NCBI36
NG_028035.1:g.47278G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000382483.4:c.1268G>C MANE Select ENSP00000371923.3:p.Arg423Pro
ENST00000382483.3:c.1268G>C ENSP00000371923.3:p.Arg423Pro
NM_178857.5:c.1268G>C NP_849188.4:p.Arg423Pro
NM_178857.6:c.1268G>C MANE Select NP_849188.4:p.Arg423Pro
Search 100 bp 5'
Search 100 bp 3'