Canonical Allele Identifier: CA459620126
Gene: RP1L1 HGNC NCBI

Linked Data

dbSNP Id: rs79329877
gnomAD v4: 8-10622701-T-G
MyVariant Identifiers: chr8:g.10480211T>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.10622701T>G , CM000670.2:g.10622701T>G GRCh38
NC_000008.10:g.10480211T>G , CM000670.1:g.10480211T>G GRCh37
NC_000008.9:g.10517621T>G NCBI36
NG_028035.1:g.37407A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000382483.4:c.501A>C MANE Select ENSP00000371923.3:p.Thr167=
ENST00000329335.3:n.751A>C
ENST00000382483.3:c.501A>C ENSP00000371923.3:p.Thr167=
NM_178857.5:c.501A>C NP_849188.4:p.Thr167=
NM_178857.6:c.501A>C MANE Select NP_849188.4:p.Thr167=
Search 100 bp 5'
Search 100 bp 3'