Canonical Allele Identifier: CA4624635

Gene: RP1L1

Linked Data

• dbSNP Id: rs762986684
• ExAC: 8:10468635 C / T
• gnomAD v2: 8-10468635-C-T
• gnomAD v4: 8-10611125-C-T
• MyVariant Identifiers: chr8:g.10468635C>T (hg19) ; chr8:g.10611125C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.10611125C>T , CM000670.2:g.10611125C>T	GRCh38
NC_000008.10:g.10468635C>T , CM000670.1:g.10468635C>T	GRCh37
NC_000008.9:g.10506045C>T	NCBI36
NG_028035.1:g.48983G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000382483.4:c.2973G>A MANE Select	ENSP00000371923.3:p.Glu991=
ENST00000382483.3:c.2973G>A	ENSP00000371923.3:p.Glu991=
NM_178857.5:c.2973G>A	NP_849188.4:p.Glu991=
NM_178857.6:c.2973G>A MANE Select	NP_849188.4:p.Glu991=