Canonical Allele Identifier: CA4625174

Gene: RP1L1

Linked Data

• ClinVar Variation Id: 361376
• ClinVar RCV Id: RCV000261708 ; RCV000415757
• dbSNP Id: rs138367868
• ExAC: 8:10470174 G / A
• gnomAD v2: 8-10470174-G-A
• gnomAD v3: 8-10612664-G-A
• gnomAD v4: 8-10612664-G-A
• MyVariant Identifiers: chr8:g.10470174G>A (hg19) ; chr8:g.10612664G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.10612664G>A , CM000670.2:g.10612664G>A	GRCh38
NC_000008.10:g.10470174G>A , CM000670.1:g.10470174G>A	GRCh37
NC_000008.9:g.10507584G>A	NCBI36
NG_028035.1:g.47444C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000382483.4:c.1434C>T MANE Select	ENSP00000371923.3:p.Asp478=
ENST00000382483.3:c.1434C>T	ENSP00000371923.3:p.Asp478=
NM_178857.5:c.1434C>T	NP_849188.4:p.Asp478=
NM_178857.6:c.1434C>T MANE Select	NP_849188.4:p.Asp478=