Canonical Allele Identifier: CA370299710
Gene: RP1L1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1297704
ClinVar RCV Id: RCV001723469
dbSNP Id: rs1798078707
gnomAD v4: 8-10622610-T-C
MyVariant Identifiers: chr8:g.10480120T>C (hg19) chr8:g.10622610T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.10622610T>C , CM000670.2:g.10622610T>C GRCh38
NC_000008.10:g.10480120T>C , CM000670.1:g.10480120T>C GRCh37
NC_000008.9:g.10517530T>C NCBI36
NG_028035.1:g.37498A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000382483.4:c.592A>G MANE Select ENSP00000371923.3:p.Thr198Ala
ENST00000329335.3:n.842A>G
ENST00000382483.3:c.592A>G ENSP00000371923.3:p.Thr198Ala
NM_178857.5:c.592A>G NP_849188.4:p.Thr198Ala
NM_178857.6:c.592A>G MANE Select NP_849188.4:p.Thr198Ala
Search 100 bp 5'
Search 100 bp 3'