Canonical Allele Identifier: CA10624492
Gene: RP1L1 HGNC NCBI

Linked Data

ClinVar Variation Id: 361192
ClinVar RCV Id: RCV000261286
dbSNP Id: rs146542491
gnomAD v2: 8-10464098-A-G
gnomAD v3: 8-10606588-A-G
gnomAD v4: 8-10606588-A-G
MyVariant Identifiers: chr8:g.10464098A>G (hg19) chr8:g.10606588A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.10606588A>G , CM000670.2:g.10606588A>G GRCh38
NC_000008.10:g.10464098A>G , CM000670.1:g.10464098A>G GRCh37
NC_000008.9:g.10501508A>G NCBI36
NG_028035.1:g.53520T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000382483.4:c.*307T>C MANE Select ENSP00000371923.3:n.*307T>C
ENST00000382483.3:c.*307T>C ENSP00000371923.3:n.*307T>C
NM_178857.5:c.*307T>C NP_849188.4:n.*307T>C
NM_178857.6:c.*307T>C MANE Select NP_849188.4:n.*307T>C
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