Canonical Allele Identifier: CA370289834
Gene: RP1L1 HGNC NCBI

Linked Data

dbSNP Id: rs1311276703
gnomAD v4: 8-10611133-C-T
MyVariant Identifiers: chr8:g.10468643C>T (hg19) chr8:g.10611133C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.10611133C>T , CM000670.2:g.10611133C>T GRCh38
NC_000008.10:g.10468643C>T , CM000670.1:g.10468643C>T GRCh37
NC_000008.9:g.10506053C>T NCBI36
NG_028035.1:g.48975G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000382483.4:c.2965G>A MANE Select ENSP00000371923.3:p.Gly989Ser
ENST00000382483.3:c.2965G>A ENSP00000371923.3:p.Gly989Ser
NM_178857.5:c.2965G>A NP_849188.4:p.Gly989Ser
NM_178857.6:c.2965G>A MANE Select NP_849188.4:p.Gly989Ser
Search 100 bp 5'
Search 100 bp 3'