Canonical Allele Identifier: CA459620303
Gene: RP1L1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr8:g.10480436G>C (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.10622926G>C , CM000670.2:g.10622926G>C GRCh38
NC_000008.10:g.10480436G>C , CM000670.1:g.10480436G>C GRCh37
NC_000008.9:g.10517846G>C NCBI36
NG_028035.1:g.37182C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000382483.4:c.276C>G MANE Select ENSP00000371923.3:p.Ala92=
ENST00000329335.3:n.526C>G
ENST00000382483.3:c.276C>G ENSP00000371923.3:p.Ala92=
NM_178857.5:c.276C>G NP_849188.4:p.Ala92=
NM_178857.6:c.276C>G MANE Select NP_849188.4:p.Ala92=
Search 100 bp 5'
Search 100 bp 3'