Canonical Allele Identifier: CA459619665
Gene: RP1L1 HGNC NCBI

Linked Data

dbSNP Id: rs1316035194
gnomAD v2: 8-10470183-G-C
gnomAD v3: 8-10612673-G-C
gnomAD v4: 8-10612673-G-C
MyVariant Identifiers: chr8:g.10470183G>C (hg19) chr8:g.10612673G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.10612673G>C , CM000670.2:g.10612673G>C GRCh38
NC_000008.10:g.10470183G>C , CM000670.1:g.10470183G>C GRCh37
NC_000008.9:g.10507593G>C NCBI36
NG_028035.1:g.47435C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000382483.4:c.1425C>G MANE Select ENSP00000371923.3:p.Thr475=
ENST00000382483.3:c.1425C>G ENSP00000371923.3:p.Thr475=
NM_178857.5:c.1425C>G NP_849188.4:p.Thr475=
NM_178857.6:c.1425C>G MANE Select NP_849188.4:p.Thr475=
Search 100 bp 5'
Search 100 bp 3'