Canonical Allele Identifier: CA4625120
Gene: RP1L1 HGNC NCBI

Linked Data

dbSNP Id: rs755897895
ExAC: 8:10470028 C / T
gnomAD v2: 8-10470028-C-T
gnomAD v3: 8-10612518-C-T
gnomAD v4: 8-10612518-C-T
MyVariant Identifiers: chr8:g.10470028C>T (hg19) chr8:g.10612518C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.10612518C>T , CM000670.2:g.10612518C>T GRCh38
NC_000008.10:g.10470028C>T , CM000670.1:g.10470028C>T GRCh37
NC_000008.9:g.10507438C>T NCBI36
NG_028035.1:g.47590G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000382483.4:c.1580G>A MANE Select ENSP00000371923.3:p.Ser527Asn
ENST00000382483.3:c.1580G>A ENSP00000371923.3:p.Ser527Asn
NM_178857.5:c.1580G>A NP_849188.4:p.Ser527Asn
NM_178857.6:c.1580G>A MANE Select NP_849188.4:p.Ser527Asn
Search 100 bp 5'
Search 100 bp 3'