Canonical Allele Identifier: CA4625143
Gene: RP1L1 HGNC NCBI

Linked Data

dbSNP Id: rs201550731
ExAC: 8:10470074 G / C
gnomAD v2: 8-10470074-G-C
gnomAD v3: 8-10612564-G-C
gnomAD v4: 8-10612564-G-C
MyVariant Identifiers: chr8:g.10470074G>C (hg19) chr8:g.10612564G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.10612564G>C , CM000670.2:g.10612564G>C GRCh38
NC_000008.10:g.10470074G>C , CM000670.1:g.10470074G>C GRCh37
NC_000008.9:g.10507484G>C NCBI36
NG_028035.1:g.47544C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000382483.4:c.1534C>G MANE Select ENSP00000371923.3:p.Leu512Val
ENST00000382483.3:c.1534C>G ENSP00000371923.3:p.Leu512Val
NM_178857.5:c.1534C>G NP_849188.4:p.Leu512Val
NM_178857.6:c.1534C>G MANE Select NP_849188.4:p.Leu512Val
Search 100 bp 5'
Search 100 bp 3'