Canonical Allele Identifier: CA4625636
Gene: RP1L1 HGNC NCBI

Linked Data

dbSNP Id: rs770332042
ExAC: 8:10480123 A / G
gnomAD v2: 8-10480123-A-G
gnomAD v3: 8-10622613-A-G
gnomAD v4: 8-10622613-A-G
MyVariant Identifiers: chr8:g.10480123A>G (hg19) chr8:g.10622613A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.10622613A>G , CM000670.2:g.10622613A>G GRCh38
NC_000008.10:g.10480123A>G , CM000670.1:g.10480123A>G GRCh37
NC_000008.9:g.10517533A>G NCBI36
NG_028035.1:g.37495T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000382483.4:c.589T>C MANE Select ENSP00000371923.3:p.Tyr197His
ENST00000329335.3:n.839T>C
ENST00000382483.3:c.589T>C ENSP00000371923.3:p.Tyr197His
NM_178857.5:c.589T>C NP_849188.4:p.Tyr197His
NM_178857.6:c.589T>C MANE Select NP_849188.4:p.Tyr197His
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