Canonical Allele Identifier: CA370300615
Gene: RP1L1 HGNC NCBI

Linked Data

dbSNP Id: rs1798090053
MyVariant Identifiers: chr8:g.10480427C>G (hg19) chr8:g.10622917C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.10622917C>G , CM000670.2:g.10622917C>G GRCh38
NC_000008.10:g.10480427C>G , CM000670.1:g.10480427C>G GRCh37
NC_000008.9:g.10517837C>G NCBI36
NG_028035.1:g.37191G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000382483.4:c.285G>C MANE Select ENSP00000371923.3:p.Gln95His
ENST00000329335.3:n.535G>C
ENST00000382483.3:c.285G>C ENSP00000371923.3:p.Gln95His
NM_178857.5:c.285G>C NP_849188.4:p.Gln95His
NM_178857.6:c.285G>C MANE Select NP_849188.4:p.Gln95His
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