Canonical Allele Identifier: CA171954588
Gene: RP1L1 HGNC NCBI

Linked Data

dbSNP Id: rs989684765
gnomAD v2: 8-10480126-A-C
gnomAD v3: 8-10622616-A-C
gnomAD v4: 8-10622616-A-C
MyVariant Identifiers: chr8:g.10480126A>C (hg19) chr8:g.10622616A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.10622616A>C , CM000670.2:g.10622616A>C GRCh38
NC_000008.10:g.10480126A>C , CM000670.1:g.10480126A>C GRCh37
NC_000008.9:g.10517536A>C NCBI36
NG_028035.1:g.37492T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000382483.4:c.586T>G MANE Select ENSP00000371923.3:p.Leu196Val
ENST00000329335.3:n.836T>G
ENST00000382483.3:c.586T>G ENSP00000371923.3:p.Leu196Val
NM_178857.5:c.586T>G NP_849188.4:p.Leu196Val
NM_178857.6:c.586T>G MANE Select NP_849188.4:p.Leu196Val
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