Canonical Allele Identifier: CA370295269
Gene: RP1L1 HGNC NCBI

Linked Data

dbSNP Id: rs1345928660
gnomAD v2: 8-10470041-G-C
gnomAD v3: 8-10612531-G-C
gnomAD v4: 8-10612531-G-C
MyVariant Identifiers: chr8:g.10470041G>C (hg19) chr8:g.10612531G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.10612531G>C , CM000670.2:g.10612531G>C GRCh38
NC_000008.10:g.10470041G>C , CM000670.1:g.10470041G>C GRCh37
NC_000008.9:g.10507451G>C NCBI36
NG_028035.1:g.47577C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000382483.4:c.1567C>G MANE Select ENSP00000371923.3:p.Pro523Ala
ENST00000382483.3:c.1567C>G ENSP00000371923.3:p.Pro523Ala
NM_178857.5:c.1567C>G NP_849188.4:p.Pro523Ala
NM_178857.6:c.1567C>G MANE Select NP_849188.4:p.Pro523Ala
Search 100 bp 5'
Search 100 bp 3'