Canonical Allele Identifier: CA4625118
Gene: RP1L1 HGNC NCBI

Linked Data

dbSNP Id: rs374232439
ExAC: 8:10470019 C / A
gnomAD v2: 8-10470019-C-A
gnomAD v3: 8-10612509-C-A
gnomAD v4: 8-10612509-C-A
MyVariant Identifiers: chr8:g.10470019C>A (hg19) chr8:g.10612509C>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.10612509C>A , CM000670.2:g.10612509C>A GRCh38
NC_000008.10:g.10470019C>A , CM000670.1:g.10470019C>A GRCh37
NC_000008.9:g.10507429C>A NCBI36
NG_028035.1:g.47599G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000382483.4:c.1589G>T MANE Select ENSP00000371923.3:p.Gly530Val
ENST00000382483.3:c.1589G>T ENSP00000371923.3:p.Gly530Val
NM_178857.5:c.1589G>T NP_849188.4:p.Gly530Val
NM_178857.6:c.1589G>T MANE Select NP_849188.4:p.Gly530Val
Search 100 bp 5'
Search 100 bp 3'