Canonical Allele Identifier: CA4623417

Gene: RP1L1

Linked Data

• ClinVar Variation Id: 361229
• ClinVar RCV Id: RCV000392401 ; RCV001796002 ; RCV003888856
• dbSNP Id: rs11782670
• ExAC: 8:10465399 T / A
• gnomAD v2: 8-10465399-T-A
• gnomAD v3: 8-10607889-T-A
• gnomAD v4: 8-10607889-T-A
• MyVariant Identifiers: chr8:g.10465399T>A (hg19) ; chr8:g.10607889T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.10607889T>A , CM000670.2:g.10607889T>A	GRCh38
NC_000008.10:g.10465399T>A , CM000670.1:g.10465399T>A	GRCh37
NC_000008.9:g.10502809T>A	NCBI36
NG_028035.1:g.52219A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382483.4:c.6209A>T MANE Select	ENSP00000371923.3:p.Glu2070Val
ENST00000382483.3:c.6209A>T	ENSP00000371923.3:p.Glu2070Val
NM_178857.5:c.6209A>T	NP_849188.4:p.Glu2070Val
NM_178857.6:c.6209A>T MANE Select	NP_849188.4:p.Glu2070Val