Canonical Allele Identifier: CA845135624
Gene: RP1L1 HGNC NCBI

Linked Data

dbSNP Id: rs1405700532
gnomAD v3: 8-10622459-T-G
gnomAD v4: 8-10622459-T-G
MyVariant Identifiers: chr8:g.10479969T>G (hg19) chr8:g.10622459T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.10622459T>G , CM000670.2:g.10622459T>G GRCh38
NC_000008.10:g.10479969T>G , CM000670.1:g.10479969T>G GRCh37
NC_000008.9:g.10517379T>G NCBI36
NG_028035.1:g.37649A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000382483.4:c.609+134A>C MANE Select ENSP00000371923.3:n.609+134A>C
ENST00000329335.3:n.859+134A>C
ENST00000382483.3:c.609+134A>C ENSP00000371923.3:n.609+134A>C
NM_178857.5:c.609+134A>C NP_849188.4:n.609+134A>C
NM_178857.6:c.609+134A>C MANE Select NP_849188.4:n.609+134A>C
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