Canonical Allele Identifier: CA459619857
Gene: RP1L1 HGNC NCBI

Linked Data

gnomAD v4: 8-10622614-C-T
MyVariant Identifiers: chr8:g.10480124C>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.10622614C>T , CM000670.2:g.10622614C>T GRCh38
NC_000008.10:g.10480124C>T , CM000670.1:g.10480124C>T GRCh37
NC_000008.9:g.10517534C>T NCBI36
NG_028035.1:g.37494G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000382483.4:c.588G>A MANE Select ENSP00000371923.3:p.Leu196=
ENST00000329335.3:n.838G>A
ENST00000382483.3:c.588G>A ENSP00000371923.3:p.Leu196=
NM_178857.5:c.588G>A NP_849188.4:p.Leu196=
NM_178857.6:c.588G>A MANE Select NP_849188.4:p.Leu196=
Search 100 bp 5'
Search 100 bp 3'