Canonical Allele Identifier: CA4625610
Gene: RP1L1 HGNC NCBI

Linked Data

dbSNP Id: rs755861527
ExAC: 8:10480081 C / G
gnomAD v2: 8-10480081-C-G
gnomAD v3: 8-10622571-C-G
gnomAD v4: 8-10622571-C-G
MyVariant Identifiers: chr8:g.10480081C>G (hg19) chr8:g.10622571C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.10622571C>G , CM000670.2:g.10622571C>G GRCh38
NC_000008.10:g.10480081C>G , CM000670.1:g.10480081C>G GRCh37
NC_000008.9:g.10517491C>G NCBI36
NG_028035.1:g.37537G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000382483.4:c.609+22G>C MANE Select ENSP00000371923.3:n.609+22G>C
ENST00000329335.3:n.859+22G>C
ENST00000382483.3:c.609+22G>C ENSP00000371923.3:n.609+22G>C
NM_178857.5:c.609+22G>C NP_849188.4:n.609+22G>C
NM_178857.6:c.609+22G>C MANE Select NP_849188.4:n.609+22G>C
Search 100 bp 5'
Search 100 bp 3'