Canonical Allele Identifier: CA4623536
Gene: RP1L1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1306813
ClinVar RCV Id: RCV001770993
dbSNP Id: rs769602264
ExAC: 8:10465823 C / A
gnomAD v2: 8-10465823-C-A
gnomAD v4: 8-10608313-C-A
MyVariant Identifiers: chr8:g.10465823C>A (hg19) chr8:g.10608313C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.10608313C>A , CM000670.2:g.10608313C>A GRCh38
NC_000008.10:g.10465823C>A , CM000670.1:g.10465823C>A GRCh37
NC_000008.9:g.10503233C>A NCBI36
NG_028035.1:g.51795G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000382483.4:c.5785G>T MANE Select ENSP00000371923.3:p.Gly1929Trp
ENST00000382483.3:c.5785G>T ENSP00000371923.3:p.Gly1929Trp
NM_178857.5:c.5785G>T NP_849188.4:p.Gly1929Trp
NM_178857.6:c.5785G>T MANE Select NP_849188.4:p.Gly1929Trp
Search 100 bp 5'
Search 100 bp 3'